SNP Links for Protein (Select 194440685) - SNP

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Links from Protein

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Select item 14811734431.

rs1481173443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:103458305 (GRCh38)
10:105218062 (GRCh37)
Canonical SPDI:: NC_000010.11:103458304:G:T
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103458305G>T, NC_000010.10:g.105218062G>T, NG_016855.1:g.5587C>A, NM_001001412.4:c.447C>A, NM_001001412.3:c.447C>A

Select item 14764987432.

rs1476498743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103458315 (GRCh38)
10:105218072 (GRCh37)
Canonical SPDI:: NC_000010.11:103458314:C:T
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
HGVS:: NC_000010.11:g.103458315C>T, NC_000010.10:g.105218072C>T, NG_016855.1:g.5577G>A, NM_001001412.4:c.437G>A, NM_001001412.3:c.437G>A, NP_001001412.3:p.Gly146Asp

Select item 14723038473.

rs1472303847 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:103455648 (GRCh38)
10:105215405 (GRCh37)
Canonical SPDI:: NC_000010.11:103455647:A:G
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.103455648A>G, NC_000010.10:g.105215405A>G, NG_016855.1:g.8244T>C, NM_001001412.4:c.655T>C, NM_001001412.3:c.655T>C, NP_001001412.3:p.Tyr219His

Select item 14720018654.

rs1472001865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103458487 (GRCh38)
10:105218244 (GRCh37)
Canonical SPDI:: NC_000010.11:103458486:G:A
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000026/7 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000010.11:g.103458487G>A, NC_000010.10:g.105218244G>A, NG_016855.1:g.5405C>T, NM_001001412.4:c.265C>T, NM_001001412.3:c.265C>T, NP_001001412.3:p.Arg89Trp

Select item 14689832755.

rs1468983275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:103458198 (GRCh38)
10:105217955 (GRCh37)
Canonical SPDI:: NC_000010.11:103458197:T:G
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000062/2 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.103458198T>G, NC_000010.10:g.105217955T>G, NG_016855.1:g.5694A>C, NM_001001412.4:c.554A>C, NM_001001412.3:c.554A>C, NP_001001412.3:p.Gln185Pro

Select item 14652549266.

rs1465254926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103455385 (GRCh38)
10:105215142 (GRCh37)
Canonical SPDI:: NC_000010.11:103455384:C:T
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.103455385C>T, NC_000010.10:g.105215142C>T, NG_016855.1:g.8507G>A, NM_001001412.4:c.918G>A, NM_001001412.3:c.918G>A, NP_001001412.3:p.Trp306Ter

Select item 14608433977.

rs1460843397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:103458483 (GRCh38)
10:105218240 (GRCh37)
Canonical SPDI:: NC_000010.11:103458482:G:T
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103458483G>T, NC_000010.10:g.105218240G>T, NG_016855.1:g.5409C>A, NM_001001412.4:c.269C>A, NM_001001412.3:c.269C>A, NP_001001412.3:p.Ala90Asp

Select item 14582975958.

rs1458297595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103458657 (GRCh38)
10:105218414 (GRCh37)
Canonical SPDI:: NC_000010.11:103458656:G:A
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103458657G>A, NC_000010.10:g.105218414G>A, NG_016855.1:g.5235C>T, NM_001001412.4:c.95C>T, NM_001001412.3:c.95C>T, NP_001001412.3:p.Ala32Val

Select item 14560850519.

rs1456085051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:103458743 (GRCh38)
10:105218500 (GRCh37)
Canonical SPDI:: NC_000010.11:103458742:G:C
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103458743G>C, NC_000010.10:g.105218500G>C, NG_016855.1:g.5149C>G, NM_001001412.4:c.9C>G, NM_001001412.3:c.9C>G, NP_001001412.3:p.Asp3Glu

Select item 145479891610.

rs1454798916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103458206 (GRCh38)
10:105217963 (GRCh37)
Canonical SPDI:: NC_000010.11:103458205:G:A
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
HGVS:: NC_000010.11:g.103458206G>A, NC_000010.10:g.105217963G>A, NG_016855.1:g.5686C>T, NM_001001412.4:c.546C>T, NM_001001412.3:c.546C>T

Select item 145458285911.

rs1454582859 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:103455319 (GRCh38)
10:105215076 (GRCh37)
Canonical SPDI:: NC_000010.11:103455318:A:C
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.103455319A>C, NC_000010.10:g.105215076A>C, NG_016855.1:g.8573T>G, NM_001001412.4:c.984T>G, NM_001001412.3:c.984T>G

Select item 145373311712.

rs1453733117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103458650 (GRCh38)
10:105218407 (GRCh37)
Canonical SPDI:: NC_000010.11:103458649:C:T
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103458650C>T, NC_000010.10:g.105218407C>T, NG_016855.1:g.5242G>A, NM_001001412.4:c.102G>A, NM_001001412.3:c.102G>A, NP_001001412.3:p.Met34Ile

Select item 145164820913.

rs1451648209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:103455413 (GRCh38)
10:105215170 (GRCh37)
Canonical SPDI:: NC_000010.11:103455412:C:A
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.103455413C>A, NC_000010.10:g.105215170C>A, NG_016855.1:g.8479G>T, NM_001001412.4:c.890G>T, NM_001001412.3:c.890G>T, NP_001001412.3:p.Gly297Val

Select item 144946250214.

rs1449462502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:103458547 (GRCh38)
10:105218304 (GRCh37)
Canonical SPDI:: NC_000010.11:103458546:G:C
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000142/2 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.103458547G>C, NC_000010.10:g.105218304G>C, NG_016855.1:g.5345C>G, NM_001001412.4:c.205C>G, NM_001001412.3:c.205C>G, NP_001001412.3:p.Leu69Val

Select item 144472893015.

rs1444728930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:103458490 (GRCh38)
10:105218247 (GRCh37)
Canonical SPDI:: NC_000010.11:103458489:G:A,NC_000010.11:103458489:G:T
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.103458490G>A, NC_000010.11:g.103458490G>T, NC_000010.10:g.105218247G>A, NC_000010.10:g.105218247G>T, NG_016855.1:g.5402C>T, NG_016855.1:g.5402C>A, NM_001001412.4:c.262C>T, NM_001001412.4:c.262C>A, NM_001001412.3:c.262C>T, NM_001001412.3:c.262C>A, NP_001001412.3:p.Arg88Cys, NP_001001412.3:p.Arg88Ser

Select item 144373821216.

rs1443738212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:103455323 (GRCh38)
10:105215080 (GRCh37)
Canonical SPDI:: NC_000010.11:103455322:C:A
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103455323C>A, NC_000010.10:g.105215080C>A, NG_016855.1:g.8569G>T, NM_001001412.4:c.980G>T, NM_001001412.3:c.980G>T, NP_001001412.3:p.Trp327Leu

Select item 143966354117.

rs1439663541 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 10:103458745 (GRCh38)
10:105218502 (GRCh37)
Canonical SPDI:: NC_000010.11:103458744:CC:C
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.103458746del, NC_000010.10:g.105218503del, NG_016855.1:g.5147del, NM_001001412.4:c.7del, NM_001001412.3:c.7del, NP_001001412.3:p.Asp3fs

Select item 143825472618.

rs1438254726 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 10:103458675 (GRCh38)
10:105218432 (GRCh37)
Canonical SPDI:: NC_000010.11:103458674:A:
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.103458675del, NC_000010.10:g.105218432del, NG_016855.1:g.5217del, NM_001001412.4:c.77del, NM_001001412.3:c.77del, NP_001001412.3:p.Ile26fs

Select item 143799886219.

rs1437998862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:103458215 (GRCh38)
10:105217972 (GRCh37)
Canonical SPDI:: NC_000010.11:103458214:G:T
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.103458215G>T, NC_000010.10:g.105217972G>T, NG_016855.1:g.5677C>A, NM_001001412.4:c.537C>A, NM_001001412.3:c.537C>A, NP_001001412.3:p.Tyr179Ter

Select item 143578936720.

rs1435789367 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:103455657 (GRCh38)
10:105215414 (GRCh37)
Canonical SPDI:: NC_000010.11:103455656:T:C,NC_000010.11:103455656:T:G
Gene:: CALHM1 (Varview), LOC124902494 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0001/1 (ALFA)
HGVS:: NC_000010.11:g.103455657T>C, NC_000010.11:g.103455657T>G, NC_000010.10:g.105215414T>C, NC_000010.10:g.105215414T>G, NG_016855.1:g.8235A>G, NG_016855.1:g.8235A>C, NM_001001412.4:c.646A>G, NM_001001412.4:c.646A>C, NM_001001412.3:c.646A>G, NM_001001412.3:c.646A>C, NP_001001412.3:p.Lys216Glu, NP_001001412.3:p.Lys216Gln

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