Canonical Allele Identifier: CA384985821
Gene: KRT4 HGNC NCBI

Linked Data

dbSNP Id: rs1939825443
gnomAD v3: 12-52807698-G-A
gnomAD v4: 12-52807698-G-A
MyVariant Identifiers: chr12:g.53201482G>A (hg19) chr12:g.52807698G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52807698G>A , CM000674.2:g.52807698G>A GRCh38
NC_000012.11:g.53201482G>A , CM000674.1:g.53201482G>A GRCh37
NC_000012.10:g.51487749G>A NCBI36
NG_007380.1:g.11854C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000551956.2:c.1292C>T MANE Select ENSP00000448220.1:p.Ala431Val
ENST00000548097.5:c.*804C>T ENSP00000449755.1:n.*804C>T
ENST00000551956.1:c.1292C>T ENSP00000448220.1:p.Ala431Val
NM_002272.3:c.1292C>T NP_002263.3:p.Ala431Val
NM_002272.4:c.1292C>T MANE Select NP_002263.3:p.Ala431Val
Search 100 bp 5'
Search 100 bp 3'