Canonical Allele Identifier: CA479875188
Gene: KRT4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53205597C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52811813C>G , CM000674.2:g.52811813C>G GRCh38
NC_000012.11:g.53205597C>G , CM000674.1:g.53205597C>G GRCh37
NC_000012.10:g.51491864C>G NCBI36
NG_007380.1:g.7739G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000551956.2:c.627G>C MANE Select ENSP00000448220.1:p.Leu209=
ENST00000548097.5:c.*139G>C ENSP00000449755.1:n.*139G>C
ENST00000551436.1:n.185G>C
ENST00000551956.1:c.627G>C ENSP00000448220.1:p.Leu209=
ENST00000552668.1:c.*83-997G>C ENSP00000447320.1:n.*83-997G>C
NM_002272.3:c.627G>C NP_002263.3:p.Leu209=
NM_002272.4:c.627G>C MANE Select NP_002263.3:p.Leu209=