Canonical Allele Identifier: CA480075645
Gene: KRT4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53201484C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52807700C>G , CM000674.2:g.52807700C>G GRCh38
NC_000012.11:g.53201484C>G , CM000674.1:g.53201484C>G GRCh37
NC_000012.10:g.51487751C>G NCBI36
NG_007380.1:g.11852G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000551956.2:c.1290G>C MANE Select ENSP00000448220.1:p.Leu430=
ENST00000548097.5:c.*802G>C ENSP00000449755.1:n.*802G>C
ENST00000551956.1:c.1290G>C ENSP00000448220.1:p.Leu430=
NM_002272.3:c.1290G>C NP_002263.3:p.Leu430=
NM_002272.4:c.1290G>C MANE Select NP_002263.3:p.Leu430=