Canonical Allele Identifier: CA6588856
Gene: KRT4 HGNC NCBI

Linked Data

dbSNP Id: rs745724498
ExAC: 12:53207786 C / T
gnomAD v2: 12-53207786-C-T
gnomAD v3: 12-52814002-C-T
gnomAD v4: 12-52814002-C-T
COSMIC: COSM5480208
MyVariant Identifiers: chr12:g.53207786C>T (hg19) chr12:g.52814002C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52814002C>T , CM000674.2:g.52814002C>T GRCh38
NC_000012.11:g.53207786C>T , CM000674.1:g.53207786C>T GRCh37
NC_000012.10:g.51494053C>T NCBI36
NG_007380.1:g.5550G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000551956.2:c.57G>A MANE Select ENSP00000448220.1:p.Ser19=
ENST00000548097.5:c.57G>A ENSP00000449755.1:p.Ser19=
ENST00000551956.1:c.57G>A ENSP00000448220.1:p.Ser19=
ENST00000552668.1:c.57G>A ENSP00000447320.1:p.Ser19=
NM_002272.3:c.57G>A NP_002263.3:p.Ser19=
NM_002272.4:c.57G>A MANE Select NP_002263.3:p.Ser19=
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