Canonical Allele Identifier: CA384991220
Gene: KRT4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2238495
ClinVar RCV Id: RCV002737062
MyVariant Identifiers: chr12:g.53207719A>T (hg19) chr12:g.52813935A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52813935A>T , CM000674.2:g.52813935A>T GRCh38
NC_000012.11:g.53207719A>T , CM000674.1:g.53207719A>T GRCh37
NC_000012.10:g.51493986A>T NCBI36
NG_007380.1:g.5617T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000551956.2:c.124T>A MANE Select ENSP00000448220.1:p.Cys42Ser
ENST00000548097.5:c.124T>A ENSP00000449755.1:p.Cys42Ser
ENST00000551956.1:c.124T>A ENSP00000448220.1:p.Cys42Ser
ENST00000552668.1:c.124T>A ENSP00000447320.1:p.Cys42Ser
NM_002272.3:c.124T>A NP_002263.3:p.Cys42Ser
NM_002272.4:c.124T>A MANE Select NP_002263.3:p.Cys42Ser
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