SNP Links for Protein (Select 187607407) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:23557207 (GRCh38)
14:24026416 (GRCh37)
Canonical SPDI:: NC_000014.9:23557206:C:T
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23557207C>T, NC_000014.8:g.24026416C>T, NM_024328.6:c.450C>T, NM_024328.5:c.450C>T, NM_024328.4:c.450C>T, NM_001126339.3:c.450C>T, NM_001126339.2:c.450C>T

Select item 146028054114.

rs1460280541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23557084 (GRCh38)
14:24026293 (GRCh37)
Canonical SPDI:: NC_000014.9:23557083:G:A
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant,2KB_upstream_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_000014.9:g.23557084G>A, NC_000014.8:g.24026293G>A, NM_024328.6:c.327G>A, NM_024328.5:c.327G>A, NM_024328.4:c.327G>A, NM_001126339.3:c.327G>A, NM_001126339.2:c.327G>A

Select item 145824554515.

rs1458245545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:23556790 (GRCh38)
14:24025999 (GRCh37)
Canonical SPDI:: NC_000014.9:23556789:G:T
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
HGVS:: NC_000014.9:g.23556790G>T, NC_000014.8:g.24025999G>T, NM_024328.6:c.33G>T, NM_024328.5:c.33G>T, NM_024328.4:c.33G>T, NM_001126339.3:c.33G>T, NM_001126339.2:c.33G>T, NM_001256062.2:c.33G>T, NM_001256062.1:c.33G>T, NM_001256322.2:c.33G>T, NM_001256322.1:c.33G>T, NM_001256321.2:c.33G>T, NM_001256321.1:c.33G>T, NM_001256323.2:c.33G>T, NM_001256323.1:c.33G>T, NP_077304.1:p.Lys11Asn, NP_001119811.1:p.Lys11Asn, NP_001242991.1:p.Lys11Asn, NP_001243251.1:p.Lys11Asn, NP_001243250.1:p.Lys11Asn, NP_001243252.1:p.Lys11Asn

Select item 145434040616.

rs1454340406 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:23557126 (GRCh38)
14:24026335 (GRCh37)
Canonical SPDI:: NC_000014.9:23557125:T:C,NC_000014.9:23557125:T:G
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.23557126T>C, NC_000014.9:g.23557126T>G, NC_000014.8:g.24026335T>C, NC_000014.8:g.24026335T>G, NM_024328.6:c.369T>C, NM_024328.6:c.369T>G, NM_024328.5:c.369T>C, NM_024328.5:c.369T>G, NM_024328.4:c.369T>C, NM_024328.4:c.369T>G, NM_001126339.3:c.369T>C, NM_001126339.3:c.369T>G, NM_001126339.2:c.369T>C, NM_001126339.2:c.369T>G

Select item 145131326517.

rs1451313265 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGC>- [Show Flanks]
Chromosome:: 14:23556903 (GRCh38)
14:24026112 (GRCh37)
Canonical SPDI:: NC_000014.9:23556900:GCAGGC:GC
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,frameshift_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.23556903_23556906del, NC_000014.8:g.24026112_24026115del, NM_024328.6:c.146_149del, NM_024328.5:c.146_149del, NM_024328.4:c.146_149del, NM_001126339.3:c.146_149del, NM_001126339.2:c.146_149del, NM_001256062.2:c.146_149del, NM_001256062.1:c.146_149del, NM_001256322.2:c.146_149del, NM_001256322.1:c.146_149del, NM_001256321.2:c.146_149del, NM_001256321.1:c.146_149del, NM_001256323.2:c.146_149del, NM_001256323.1:c.146_149del, NP_077304.1:p.Gln49fs, NP_001119811.1:p.Gln49fs, NP_001242991.1:p.Gln49fs, NP_001243251.1:p.Gln49fs, NP_001243250.1:p.Gln49fs, NP_001243252.1:p.Gln49fs

Select item 144357286818.

rs1443572868 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GACG [Show Flanks]
Chromosome:: 14:23556923 (GRCh38)
14:24026133 (GRCh37)
Canonical SPDI:: NC_000014.9:23556923:GACG:GACGGACG
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,frameshift_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GACGGACG=0./0 (ALFA)
GACG=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.23556924_23556927dup, NC_000014.8:g.24026133_24026136dup, NM_024328.6:c.167_170dup, NM_024328.5:c.167_170dup, NM_024328.4:c.167_170dup, NM_001126339.3:c.167_170dup, NM_001126339.2:c.167_170dup, NM_001256062.2:c.167_170dup, NM_001256062.1:c.167_170dup, NM_001256322.2:c.167_170dup, NM_001256322.1:c.167_170dup, NM_001256321.2:c.167_170dup, NM_001256321.1:c.167_170dup, NM_001256323.2:c.167_170dup, NM_001256323.1:c.167_170dup, NP_077304.1:p.Glu58fs, NP_001119811.1:p.Glu58fs, NP_001242991.1:p.Glu58fs, NP_001243251.1:p.Glu58fs, NP_001243250.1:p.Glu58fs, NP_001243252.1:p.Glu58fs

Select item 144095119219.

rs1440951192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:23556832 (GRCh38)
14:24026041 (GRCh37)
Canonical SPDI:: NC_000014.9:23556831:G:T
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.23556832G>T, NC_000014.8:g.24026041G>T, NM_024328.6:c.75G>T, NM_024328.5:c.75G>T, NM_024328.4:c.75G>T, NM_001126339.3:c.75G>T, NM_001126339.2:c.75G>T, NM_001256062.2:c.75G>T, NM_001256062.1:c.75G>T, NM_001256322.2:c.75G>T, NM_001256322.1:c.75G>T, NM_001256321.2:c.75G>T, NM_001256321.1:c.75G>T, NM_001256323.2:c.75G>T, NM_001256323.1:c.75G>T, NP_077304.1:p.Leu25Phe, NP_001119811.1:p.Leu25Phe, NP_001242991.1:p.Leu25Phe, NP_001243251.1:p.Leu25Phe, NP_001243250.1:p.Leu25Phe, NP_001243252.1:p.Leu25Phe

Select item 142855874820.

rs1428558748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23556817 (GRCh38)
14:24026026 (GRCh37)
Canonical SPDI:: NC_000014.9:23556816:G:A
Gene:: THTPA (Varview), ZFHX2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.23556817G>A, NC_000014.8:g.24026026G>A, NM_024328.6:c.60G>A, NM_024328.5:c.60G>A, NM_024328.4:c.60G>A, NM_001126339.3:c.60G>A, NM_001126339.2:c.60G>A, NM_001256062.2:c.60G>A, NM_001256062.1:c.60G>A, NM_001256322.2:c.60G>A, NM_001256322.1:c.60G>A, NM_001256321.2:c.60G>A, NM_001256321.1:c.60G>A, NM_001256323.2:c.60G>A, NM_001256323.1:c.60G>A

dbSNP