SNP Links for Protein (Select 331999948) - SNP

Links from Protein

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Select item 14799475391.

rs1479947539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53552616 (GRCh38)
12:53946400 (GRCh37)
Canonical SPDI:: NC_000012.12:53552615:G:A
Gene:: ATF7 (Varview), ATF7-NPFF (Varview), LOC124902937 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53552616G>A, NC_000012.11:g.53946400G>A, NM_006856.3:c.70C>T, NM_006856.2:c.70C>T, NM_001366558.2:c.70C>T, NM_001366558.1:c.70C>T, NM_001366555.2:c.70C>T, NM_001366555.1:c.70C>T, NM_001130060.2:c.70C>T, NM_001130060.1:c.70C>T, NM_001366556.2:c.70C>T, NM_001366556.1:c.70C>T, NM_001366562.2:c.70C>T, NM_001366562.1:c.70C>T, NR_073163.2:n.195C>T, NR_073163.1:n.228C>T, NM_001206682.2:c.70C>T, NM_001206682.1:c.70C>T, NM_001130059.1:c.70C>T, NR_159377.1:n.195C>T, NM_001366559.1:c.70C>T, NM_001366560.1:c.70C>T, NM_001206683.1:c.70C>T

Select item 14766645182.

rs1476664518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:53600977 (GRCh38)
12:53994761 (GRCh37)
Canonical SPDI:: NC_000012.12:53600976:C:A
Gene:: ATF7 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53600977C>A, NC_000012.11:g.53994761C>A, NM_006856.3:c.24G>T, NM_006856.2:c.24G>T, NM_001366558.2:c.24G>T, NM_001366558.1:c.24G>T, NM_001366555.2:c.24G>T, NM_001366555.1:c.24G>T, NM_001130060.2:c.24G>T, NM_001130060.1:c.24G>T, NM_001366556.2:c.24G>T, NM_001366556.1:c.24G>T, NM_001366561.2:c.31G>T, NM_001366561.1:c.31G>T, NM_001366562.2:c.24G>T, NM_001366562.1:c.24G>T, NR_073163.2:n.149G>T, NR_073163.1:n.182G>T, NM_001206682.2:c.24G>T, NM_001206682.1:c.24G>T, NM_001366563.2:c.31G>T, NM_001366563.1:c.31G>T, NM_001130059.1:c.24G>T, NR_159377.1:n.149G>T, NM_001366559.1:c.24G>T, NM_001366560.1:c.24G>T, NM_001206683.1:c.24G>T, NP_001353490.1:p.Val11Leu, NP_001353492.1:p.Val11Leu

Select item 14639544733.

rs1463954473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53552564 (GRCh38)
12:53946348 (GRCh37)
Canonical SPDI:: NC_000012.12:53552563:C:T
Gene:: ATF7 (Varview), ATF7-NPFF (Varview), LOC124902937 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53552564C>T, NC_000012.11:g.53946348C>T, NM_006856.3:c.122G>A, NM_006856.2:c.122G>A, NM_001366558.2:c.122G>A, NM_001366558.1:c.122G>A, NM_001366555.2:c.122G>A, NM_001366555.1:c.122G>A, NM_001130060.2:c.122G>A, NM_001130060.1:c.122G>A, NM_001366556.2:c.122G>A, NM_001366556.1:c.122G>A, NM_001366562.2:c.122G>A, NM_001366562.1:c.122G>A, NR_073163.2:n.247G>A, NR_073163.1:n.280G>A, NM_001206682.2:c.122G>A, NM_001206682.1:c.122G>A, NM_001130059.1:c.122G>A, NR_159377.1:n.247G>A, NM_001366559.1:c.122G>A, NM_001366560.1:c.122G>A, NM_001206683.1:c.122G>A, NP_006847.1:p.Arg41Gln, NP_001353487.1:p.Arg41Gln, NP_001353484.1:p.Arg41Gln, NP_001123532.1:p.Arg41Gln, NP_001353485.1:p.Arg41Gln, NP_001353491.1:p.Arg41Gln, NP_001193611.1:p.Arg41Gln, NP_001353488.1:p.Arg41Gln, NP_001353489.1:p.Arg41Gln, NP_001193612.1:p.Arg41Gln

Select item 14635920184.

rs1463592018 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:53543342 (GRCh38)
12:53937126 (GRCh37)
Canonical SPDI:: NC_000012.12:53543341:C:A
Gene:: ATF7 (Varview), ATF7-NPFF (Varview), LOC124902937 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.53543342C>A, NC_000012.11:g.53937126C>A, NM_006856.3:c.252G>T, NM_006856.2:c.252G>T, NM_001366558.2:c.252G>T, NM_001366558.1:c.252G>T, NM_001366555.2:c.252G>T, NM_001366555.1:c.252G>T, NM_001130060.2:c.252G>T, NM_001130060.1:c.252G>T, NM_001366556.2:c.252G>T, NM_001366556.1:c.252G>T, NM_001366562.2:c.252G>T, NM_001366562.1:c.252G>T, NR_073163.2:n.377G>T, NR_073163.1:n.410G>T, NM_001206682.2:c.252G>T, NM_001206682.1:c.252G>T, NM_001366563.2:c.162G>T, NM_001366563.1:c.162G>T, NM_001130059.1:c.252G>T, NR_159377.1:n.377G>T, NM_001366559.1:c.252G>T, NM_001366560.1:c.252G>T, NM_001206683.1:c.252G>T, NP_006847.1:p.Glu84Asp, NP_001353487.1:p.Glu84Asp, NP_001353484.1:p.Glu84Asp, NP_001123532.1:p.Glu84Asp, NP_001353485.1:p.Glu84Asp, NP_001353491.1:p.Glu84Asp, NP_001193611.1:p.Glu84Asp, NP_001353492.1:p.Glu54Asp, NP_001353488.1:p.Glu84Asp, NP_001353489.1:p.Glu84Asp, NP_001193612.1:p.Glu84Asp

Select item 14518759625.

rs1451875962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53543420 (GRCh38)
12:53937204 (GRCh37)
Canonical SPDI:: NC_000012.12:53543419:C:T
Gene:: ATF7 (Varview), ATF7-NPFF (Varview), LOC124902937 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.53543420C>T, NC_000012.11:g.53937204C>T, NM_006856.3:c.174G>A, NM_006856.2:c.174G>A, NM_001366558.2:c.174G>A, NM_001366558.1:c.174G>A, NM_001366555.2:c.174G>A, NM_001366555.1:c.174G>A, NM_001130060.2:c.174G>A, NM_001130060.1:c.174G>A, NM_001366556.2:c.174G>A, NM_001366556.1:c.174G>A, NM_001366561.2:c.84G>A, NM_001366561.1:c.84G>A, NM_001366562.2:c.174G>A, NM_001366562.1:c.174G>A, NR_073163.2:n.299G>A, NR_073163.1:n.332G>A, NM_001206682.2:c.174G>A, NM_001206682.1:c.174G>A, NM_001366563.2:c.84G>A, NM_001366563.1:c.84G>A, NM_001130059.1:c.174G>A, NR_159377.1:n.299G>A, NM_001366559.1:c.174G>A, NM_001366560.1:c.174G>A, NM_001206683.1:c.174G>A

Select item 14280551626.

rs1428055162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53543393 (GRCh38)
12:53937177 (GRCh37)
Canonical SPDI:: NC_000012.12:53543392:G:A
Gene:: ATF7 (Varview), ATF7-NPFF (Varview), LOC124902937 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_variant
HGVS:: NC_000012.12:g.53543393G>A, NC_000012.11:g.53937177G>A, NM_006856.3:c.201C>T, NM_006856.2:c.201C>T, NM_001366558.2:c.201C>T, NM_001366558.1:c.201C>T, NM_001366555.2:c.201C>T, NM_001366555.1:c.201C>T, NM_001130060.2:c.201C>T, NM_001130060.1:c.201C>T, NM_001366556.2:c.201C>T, NM_001366556.1:c.201C>T, NM_001366562.2:c.201C>T, NM_001366562.1:c.201C>T, NR_073163.2:n.326C>T, NR_073163.1:n.359C>T, NM_001206682.2:c.201C>T, NM_001206682.1:c.201C>T, NM_001366563.2:c.111C>T, NM_001366563.1:c.111C>T, NM_001130059.1:c.201C>T, NR_159377.1:n.326C>T, NM_001366559.1:c.201C>T, NM_001366560.1:c.201C>T, NM_001206683.1:c.201C>T

Select item 14269365407.

rs1426936540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53552601 (GRCh38)
12:53946385 (GRCh37)
Canonical SPDI:: NC_000012.12:53552600:G:A
Gene:: ATF7 (Varview), ATF7-NPFF (Varview), LOC124902937 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000012.12:g.53552601G>A, NC_000012.11:g.53946385G>A, NM_006856.3:c.85C>T, NM_006856.2:c.85C>T, NM_001366558.2:c.85C>T, NM_001366558.1:c.85C>T, NM_001366555.2:c.85C>T, NM_001366555.1:c.85C>T, NM_001130060.2:c.85C>T, NM_001130060.1:c.85C>T, NM_001366556.2:c.85C>T, NM_001366556.1:c.85C>T, NM_001366562.2:c.85C>T, NM_001366562.1:c.85C>T, NR_073163.2:n.210C>T, NR_073163.1:n.243C>T, NM_001206682.2:c.85C>T, NM_001206682.1:c.85C>T, NM_001130059.1:c.85C>T, NR_159377.1:n.210C>T, NM_001366559.1:c.85C>T, NM_001366560.1:c.85C>T, NM_001206683.1:c.85C>T, NP_006847.1:p.His29Tyr, NP_001353487.1:p.His29Tyr, NP_001353484.1:p.His29Tyr, NP_001123532.1:p.His29Tyr, NP_001353485.1:p.His29Tyr, NP_001353491.1:p.His29Tyr, NP_001193611.1:p.His29Tyr, NP_001353488.1:p.His29Tyr, NP_001353489.1:p.His29Tyr, NP_001193612.1:p.His29Tyr

Select item 14031889008.

rs1403188900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53543405 (GRCh38)
12:53937189 (GRCh37)
Canonical SPDI:: NC_000012.12:53543404:C:T
Gene:: ATF7 (Varview), ATF7-NPFF (Varview), LOC124902937 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53543405C>T, NC_000012.11:g.53937189C>T, NM_006856.3:c.189G>A, NM_006856.2:c.189G>A, NM_001366558.2:c.189G>A, NM_001366558.1:c.189G>A, NM_001366555.2:c.189G>A, NM_001366555.1:c.189G>A, NM_001130060.2:c.189G>A, NM_001130060.1:c.189G>A, NM_001366556.2:c.189G>A, NM_001366556.1:c.189G>A, NM_001366561.2:c.99G>A, NM_001366561.1:c.99G>A, NM_001366562.2:c.189G>A, NM_001366562.1:c.189G>A, NR_073163.2:n.314G>A, NR_073163.1:n.347G>A, NM_001206682.2:c.189G>A, NM_001206682.1:c.189G>A, NM_001366563.2:c.99G>A, NM_001366563.1:c.99G>A, NM_001130059.1:c.189G>A, NR_159377.1:n.314G>A, NM_001366559.1:c.189G>A, NM_001366560.1:c.189G>A, NM_001206683.1:c.189G>A

Select item 13841430799.

rs1384143079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:53543439 (GRCh38)
12:53937223 (GRCh37)
Canonical SPDI:: NC_000012.12:53543438:G:C
Gene:: ATF7 (Varview), ATF7-NPFF (Varview), LOC124902937 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.53543439G>C, NC_000012.11:g.53937223G>C, NM_006856.3:c.155C>G, NM_006856.2:c.155C>G, NM_001366558.2:c.155C>G, NM_001366558.1:c.155C>G, NM_001366555.2:c.155C>G, NM_001366555.1:c.155C>G, NM_001130060.2:c.155C>G, NM_001130060.1:c.155C>G, NM_001366556.2:c.155C>G, NM_001366556.1:c.155C>G, NM_001366561.2:c.65C>G, NM_001366561.1:c.65C>G, NM_001366562.2:c.155C>G, NM_001366562.1:c.155C>G, NR_073163.2:n.280C>G, NR_073163.1:n.313C>G, NM_001206682.2:c.155C>G, NM_001206682.1:c.155C>G, NM_001366563.2:c.65C>G, NM_001366563.1:c.65C>G, NM_001130059.1:c.155C>G, NR_159377.1:n.280C>G, NM_001366559.1:c.155C>G, NM_001366560.1:c.155C>G, NM_001206683.1:c.155C>G, NP_006847.1:p.Pro52Arg, NP_001353487.1:p.Pro52Arg, NP_001353484.1:p.Pro52Arg, NP_001123532.1:p.Pro52Arg, NP_001353485.1:p.Pro52Arg, NP_001353490.1:p.Pro22Arg, NP_001353491.1:p.Pro52Arg, NP_001193611.1:p.Pro52Arg, NP_001353492.1:p.Pro22Arg, NP_001353488.1:p.Pro52Arg, NP_001353489.1:p.Pro52Arg, NP_001193612.1:p.Pro52Arg

Select item 137440706810.

rs1374407068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:53600967 (GRCh38)
12:53994751 (GRCh37)
Canonical SPDI:: NC_000012.12:53600966:G:C
Gene:: ATF7 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000378/7 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000043/6 (GnomAD)
C=0.001563/7 (Estonian)
HGVS:: NC_000012.12:g.53600967G>C, NC_000012.11:g.53994751G>C, NM_006856.3:c.34C>G, NM_006856.2:c.34C>G, NM_001366558.2:c.34C>G, NM_001366558.1:c.34C>G, NM_001366555.2:c.34C>G, NM_001366555.1:c.34C>G, NM_001130060.2:c.34C>G, NM_001130060.1:c.34C>G, NM_001366556.2:c.34C>G, NM_001366556.1:c.34C>G, NM_001366561.2:c.41C>G, NM_001366561.1:c.41C>G, NM_001366562.2:c.34C>G, NM_001366562.1:c.34C>G, NR_073163.2:n.159C>G, NR_073163.1:n.192C>G, NM_001206682.2:c.34C>G, NM_001206682.1:c.34C>G, NM_001366563.2:c.41C>G, NM_001366563.1:c.41C>G, NM_001130059.1:c.34C>G, NR_159377.1:n.159C>G, NM_001366559.1:c.34C>G, NM_001366560.1:c.34C>G, NM_001206683.1:c.34C>G, NP_006847.1:p.Pro12Ala, NP_001353487.1:p.Pro12Ala, NP_001353484.1:p.Pro12Ala, NP_001123532.1:p.Pro12Ala, NP_001353485.1:p.Pro12Ala, NP_001353490.1:p.Pro14Arg, NP_001353491.1:p.Pro12Ala, NP_001193611.1:p.Pro12Ala, NP_001353492.1:p.Pro14Arg, NP_001353488.1:p.Pro12Ala, NP_001353489.1:p.Pro12Ala, NP_001193612.1:p.Pro12Ala

Select item 136680896411.

rs1366808964 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53543432 (GRCh38)
12:53937216 (GRCh37)
Canonical SPDI:: NC_000012.12:53543431:T:C
Gene:: ATF7 (Varview), ATF7-NPFF (Varview), LOC124902937 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53543432T>C, NC_000012.11:g.53937216T>C, NM_006856.3:c.162A>G, NM_006856.2:c.162A>G, NM_001366558.2:c.162A>G, NM_001366558.1:c.162A>G, NM_001366555.2:c.162A>G, NM_001366555.1:c.162A>G, NM_001130060.2:c.162A>G, NM_001130060.1:c.162A>G, NM_001366556.2:c.162A>G, NM_001366556.1:c.162A>G, NM_001366561.2:c.72A>G, NM_001366561.1:c.72A>G, NM_001366562.2:c.162A>G, NM_001366562.1:c.162A>G, NR_073163.2:n.287A>G, NR_073163.1:n.320A>G, NM_001206682.2:c.162A>G, NM_001206682.1:c.162A>G, NM_001366563.2:c.72A>G, NM_001366563.1:c.72A>G, NM_001130059.1:c.162A>G, NR_159377.1:n.287A>G, NM_001366559.1:c.162A>G, NM_001366560.1:c.162A>G, NM_001206683.1:c.162A>G

Select item 135418251812.

rs1354182518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53543319 (GRCh38)
12:53937103 (GRCh37)
Canonical SPDI:: NC_000012.12:53543318:C:T
Gene:: ATF7 (Varview), ATF7-NPFF (Varview), LOC124902937 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.53543319C>T, NC_000012.11:g.53937103C>T, NM_001366555.2:c.275G>A, NM_001366555.1:c.275G>A, NM_001366562.2:c.275G>A, NM_001366562.1:c.275G>A, NR_073163.2:n.400G>A, NR_073163.1:n.433G>A, NM_001206682.2:c.275G>A, NM_001206682.1:c.275G>A, NM_001366563.2:c.185G>A, NM_001366563.1:c.185G>A, NM_001130059.1:c.275G>A, NM_001206683.1:c.275G>A, NP_001353484.1:p.Arg92Lys, NP_001353491.1:p.Arg92Lys, NP_001193611.1:p.Arg92Lys, NP_001353492.1:p.Arg62Lys, NP_001193612.1:p.Arg92Lys

Select item 134529404113.

rs1345294041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53543442 (GRCh38)
12:53937226 (GRCh37)
Canonical SPDI:: NC_000012.12:53543441:G:A
Gene:: ATF7 (Varview), ATF7-NPFF (Varview), LOC124902937 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
HGVS:: NC_000012.12:g.53543442G>A, NC_000012.11:g.53937226G>A, NM_006856.3:c.152C>T, NM_006856.2:c.152C>T, NM_001366558.2:c.152C>T, NM_001366558.1:c.152C>T, NM_001366555.2:c.152C>T, NM_001366555.1:c.152C>T, NM_001130060.2:c.152C>T, NM_001130060.1:c.152C>T, NM_001366556.2:c.152C>T, NM_001366556.1:c.152C>T, NM_001366561.2:c.62C>T, NM_001366561.1:c.62C>T, NM_001366562.2:c.152C>T, NM_001366562.1:c.152C>T, NR_073163.2:n.277C>T, NR_073163.1:n.310C>T, NM_001206682.2:c.152C>T, NM_001206682.1:c.152C>T, NM_001366563.2:c.62C>T, NM_001366563.1:c.62C>T, NM_001130059.1:c.152C>T, NR_159377.1:n.277C>T, NM_001366559.1:c.152C>T, NM_001366560.1:c.152C>T, NM_001206683.1:c.152C>T, NP_006847.1:p.Thr51Met, NP_001353487.1:p.Thr51Met, NP_001353484.1:p.Thr51Met, NP_001123532.1:p.Thr51Met, NP_001353485.1:p.Thr51Met, NP_001353490.1:p.Thr21Met, NP_001353491.1:p.Thr51Met, NP_001193611.1:p.Thr51Met, NP_001353492.1:p.Thr21Met, NP_001353488.1:p.Thr51Met, NP_001353489.1:p.Thr51Met, NP_001193612.1:p.Thr51Met

Select item 134311584414.

rs1343115844 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53600986 (GRCh38)
12:53994770 (GRCh37)
Canonical SPDI:: NC_000012.12:53600985:T:C
Gene:: ATF7 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53600986T>C, NC_000012.11:g.53994770T>C, NM_006856.3:c.15A>G, NM_006856.2:c.15A>G, NM_001366558.2:c.15A>G, NM_001366558.1:c.15A>G, NM_001366555.2:c.15A>G, NM_001366555.1:c.15A>G, NM_001130060.2:c.15A>G, NM_001130060.1:c.15A>G, NM_001366556.2:c.15A>G, NM_001366556.1:c.15A>G, NM_001366561.2:c.22A>G, NM_001366561.1:c.22A>G, NM_001366562.2:c.15A>G, NM_001366562.1:c.15A>G, NR_073163.2:n.140A>G, NR_073163.1:n.173A>G, NM_001206682.2:c.15A>G, NM_001206682.1:c.15A>G, NM_001366563.2:c.22A>G, NM_001366563.1:c.22A>G, NM_001130059.1:c.15A>G, NR_159377.1:n.140A>G, NM_001366559.1:c.15A>G, NM_001366560.1:c.15A>G, NM_001206683.1:c.15A>G, NP_001353490.1:p.Thr8Ala, NP_001353492.1:p.Thr8Ala

Select item 133858632215.

rs1338586322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:53543417 (GRCh38)
12:53937201 (GRCh37)
Canonical SPDI:: NC_000012.12:53543416:C:A
Gene:: ATF7 (Varview), ATF7-NPFF (Varview), LOC124902937 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
HGVS:: NC_000012.12:g.53543417C>A, NC_000012.11:g.53937201C>A, NM_006856.3:c.177G>T, NM_006856.2:c.177G>T, NM_001366558.2:c.177G>T, NM_001366558.1:c.177G>T, NM_001366555.2:c.177G>T, NM_001366555.1:c.177G>T, NM_001130060.2:c.177G>T, NM_001130060.1:c.177G>T, NM_001366556.2:c.177G>T, NM_001366556.1:c.177G>T, NM_001366561.2:c.87G>T, NM_001366561.1:c.87G>T, NM_001366562.2:c.177G>T, NM_001366562.1:c.177G>T, NR_073163.2:n.302G>T, NR_073163.1:n.335G>T, NM_001206682.2:c.177G>T, NM_001206682.1:c.177G>T, NM_001366563.2:c.87G>T, NM_001366563.1:c.87G>T, NM_001130059.1:c.177G>T, NR_159377.1:n.302G>T, NM_001366559.1:c.177G>T, NM_001366560.1:c.177G>T, NM_001206683.1:c.177G>T, NP_006847.1:p.Lys59Asn, NP_001353487.1:p.Lys59Asn, NP_001353484.1:p.Lys59Asn, NP_001123532.1:p.Lys59Asn, NP_001353485.1:p.Lys59Asn, NP_001353490.1:p.Lys29Asn, NP_001353491.1:p.Lys59Asn, NP_001193611.1:p.Lys59Asn, NP_001353492.1:p.Lys29Asn, NP_001353488.1:p.Lys59Asn, NP_001353489.1:p.Lys59Asn, NP_001193612.1:p.Lys59Asn

Select item 125023884016.

rs1250238840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:53543350 (GRCh38)
12:53937134 (GRCh37)
Canonical SPDI:: NC_000012.12:53543349:C:A,NC_000012.12:53543349:C:T
Gene:: ATF7 (Varview), ATF7-NPFF (Varview), LOC124902937 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00006/2 (ALFA)
HGVS:: NC_000012.12:g.53543350C>A, NC_000012.12:g.53543350C>T, NC_000012.11:g.53937134C>A, NC_000012.11:g.53937134C>T, NM_006856.3:c.244G>T, NM_006856.3:c.244G>A, NM_006856.2:c.244G>T, NM_006856.2:c.244G>A, NM_001366558.2:c.244G>T, NM_001366558.2:c.244G>A, NM_001366558.1:c.244G>T, NM_001366558.1:c.244G>A, NM_001366555.2:c.244G>T, NM_001366555.2:c.244G>A, NM_001366555.1:c.244G>T, NM_001366555.1:c.244G>A, NM_001130060.2:c.244G>T, NM_001130060.2:c.244G>A, NM_001130060.1:c.244G>T, NM_001130060.1:c.244G>A, NM_001366556.2:c.244G>T, NM_001366556.2:c.244G>A, NM_001366556.1:c.244G>T, NM_001366556.1:c.244G>A, NM_001366562.2:c.244G>T, NM_001366562.2:c.244G>A, NM_001366562.1:c.244G>T, NM_001366562.1:c.244G>A, NR_073163.2:n.369G>T, NR_073163.2:n.369G>A, NR_073163.1:n.402G>T, NR_073163.1:n.402G>A, NM_001206682.2:c.244G>T, NM_001206682.2:c.244G>A, NM_001206682.1:c.244G>T, NM_001206682.1:c.244G>A, NM_001366563.2:c.154G>T, NM_001366563.2:c.154G>A, NM_001366563.1:c.154G>T, NM_001366563.1:c.154G>A, NM_001130059.1:c.244G>T, NM_001130059.1:c.244G>A, NR_159377.1:n.369G>T, NR_159377.1:n.369G>A, NM_001366559.1:c.244G>T, NM_001366559.1:c.244G>A, NM_001366560.1:c.244G>T, NM_001366560.1:c.244G>A, NM_001206683.1:c.244G>T, NM_001206683.1:c.244G>A, NP_006847.1:p.Ala82Ser, NP_006847.1:p.Ala82Thr, NP_001353487.1:p.Ala82Ser, NP_001353487.1:p.Ala82Thr, NP_001353484.1:p.Ala82Ser, NP_001353484.1:p.Ala82Thr, NP_001123532.1:p.Ala82Ser, NP_001123532.1:p.Ala82Thr, NP_001353485.1:p.Ala82Ser, NP_001353485.1:p.Ala82Thr, NP_001353491.1:p.Ala82Ser, NP_001353491.1:p.Ala82Thr, NP_001193611.1:p.Ala82Ser, NP_001193611.1:p.Ala82Thr, NP_001353492.1:p.Ala52Ser, NP_001353492.1:p.Ala52Thr, NP_001353488.1:p.Ala82Ser, NP_001353488.1:p.Ala82Thr, NP_001353489.1:p.Ala82Ser, NP_001353489.1:p.Ala82Thr, NP_001193612.1:p.Ala82Ser, NP_001193612.1:p.Ala82Thr

Select item 124225937617.

rs1242259376 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53552584 (GRCh38)
12:53946368 (GRCh37)
Canonical SPDI:: NC_000012.12:53552583:T:C
Gene:: ATF7 (Varview), ATF7-NPFF (Varview), LOC124902937 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.53552584T>C, NC_000012.11:g.53946368T>C, NM_006856.3:c.102A>G, NM_006856.2:c.102A>G, NM_001366558.2:c.102A>G, NM_001366558.1:c.102A>G, NM_001366555.2:c.102A>G, NM_001366555.1:c.102A>G, NM_001130060.2:c.102A>G, NM_001130060.1:c.102A>G, NM_001366556.2:c.102A>G, NM_001366556.1:c.102A>G, NM_001366562.2:c.102A>G, NM_001366562.1:c.102A>G, NR_073163.2:n.227A>G, NR_073163.1:n.260A>G, NM_001206682.2:c.102A>G, NM_001206682.1:c.102A>G, NM_001130059.1:c.102A>G, NR_159377.1:n.227A>G, NM_001366559.1:c.102A>G, NM_001366560.1:c.102A>G, NM_001206683.1:c.102A>G

Select item 122275497118.

rs1222754971 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53543363 (GRCh38)
12:53937147 (GRCh37)
Canonical SPDI:: NC_000012.12:53543362:T:C
Gene:: ATF7 (Varview), ATF7-NPFF (Varview), LOC124902937 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
HGVS:: NC_000012.12:g.53543363T>C, NC_000012.11:g.53937147T>C, NM_006856.3:c.231A>G, NM_006856.2:c.231A>G, NM_001366558.2:c.231A>G, NM_001366558.1:c.231A>G, NM_001366555.2:c.231A>G, NM_001366555.1:c.231A>G, NM_001130060.2:c.231A>G, NM_001130060.1:c.231A>G, NM_001366556.2:c.231A>G, NM_001366556.1:c.231A>G, NM_001366562.2:c.231A>G, NM_001366562.1:c.231A>G, NR_073163.2:n.356A>G, NR_073163.1:n.389A>G, NM_001206682.2:c.231A>G, NM_001206682.1:c.231A>G, NM_001366563.2:c.141A>G, NM_001366563.1:c.141A>G, NM_001130059.1:c.231A>G, NR_159377.1:n.356A>G, NM_001366559.1:c.231A>G, NM_001366560.1:c.231A>G, NM_001206683.1:c.231A>G

Select item 121028147019.

rs1210281470 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:53552561 (GRCh38)
12:53946345 (GRCh37)
Canonical SPDI:: NC_000012.12:53552560:G:T
Gene:: ATF7 (Varview), ATF7-NPFF (Varview), LOC124902937 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53552561G>T, NC_000012.11:g.53946345G>T, NM_006856.3:c.125C>A, NM_006856.2:c.125C>A, NM_001366558.2:c.125C>A, NM_001366558.1:c.125C>A, NM_001366555.2:c.125C>A, NM_001366555.1:c.125C>A, NM_001130060.2:c.125C>A, NM_001130060.1:c.125C>A, NM_001366556.2:c.125C>A, NM_001366556.1:c.125C>A, NM_001366562.2:c.125C>A, NM_001366562.1:c.125C>A, NR_073163.2:n.250C>A, NR_073163.1:n.283C>A, NM_001206682.2:c.125C>A, NM_001206682.1:c.125C>A, NM_001130059.1:c.125C>A, NR_159377.1:n.250C>A, NM_001366559.1:c.125C>A, NM_001366560.1:c.125C>A, NM_001206683.1:c.125C>A, NP_006847.1:p.Thr42Asn, NP_001353487.1:p.Thr42Asn, NP_001353484.1:p.Thr42Asn, NP_001123532.1:p.Thr42Asn, NP_001353485.1:p.Thr42Asn, NP_001353491.1:p.Thr42Asn, NP_001193611.1:p.Thr42Asn, NP_001353488.1:p.Thr42Asn, NP_001353489.1:p.Thr42Asn, NP_001193612.1:p.Thr42Asn

Select item 120459305620.

rs1204593056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:53552567 (GRCh38)
12:53946351 (GRCh37)
Canonical SPDI:: NC_000012.12:53552566:G:C
Gene:: ATF7 (Varview), ATF7-NPFF (Varview), LOC124902937 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53552567G>C, NC_000012.11:g.53946351G>C, NM_006856.3:c.119C>G, NM_006856.2:c.119C>G, NM_001366558.2:c.119C>G, NM_001366558.1:c.119C>G, NM_001366555.2:c.119C>G, NM_001366555.1:c.119C>G, NM_001130060.2:c.119C>G, NM_001130060.1:c.119C>G, NM_001366556.2:c.119C>G, NM_001366556.1:c.119C>G, NM_001366562.2:c.119C>G, NM_001366562.1:c.119C>G, NR_073163.2:n.244C>G, NR_073163.1:n.277C>G, NM_001206682.2:c.119C>G, NM_001206682.1:c.119C>G, NM_001130059.1:c.119C>G, NR_159377.1:n.244C>G, NM_001366559.1:c.119C>G, NM_001366560.1:c.119C>G, NM_001206683.1:c.119C>G, NP_006847.1:p.Ala40Gly, NP_001353487.1:p.Ala40Gly, NP_001353484.1:p.Ala40Gly, NP_001123532.1:p.Ala40Gly, NP_001353485.1:p.Ala40Gly, NP_001353491.1:p.Ala40Gly, NP_001193611.1:p.Ala40Gly, NP_001353488.1:p.Ala40Gly, NP_001353489.1:p.Ala40Gly, NP_001193612.1:p.Ala40Gly

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