Canonical Allele Identifier: CA6588854
Gene: KRT4 HGNC NCBI

Linked Data

dbSNP Id: rs373604363
ExAC: 12:53207784 G / T
gnomAD v2: 12-53207784-G-T
gnomAD v3: 12-52814000-G-T
gnomAD v4: 12-52814000-G-T
MyVariant Identifiers: chr12:g.53207784G>T (hg19) chr12:g.52814000G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52814000G>T , CM000674.2:g.52814000G>T GRCh38
NC_000012.11:g.53207784G>T , CM000674.1:g.53207784G>T GRCh37
NC_000012.10:g.51494051G>T NCBI36
NG_007380.1:g.5552C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000551956.2:c.59C>A MANE Select ENSP00000448220.1:p.Ala20Asp
ENST00000548097.5:c.59C>A ENSP00000449755.1:p.Ala20Asp
ENST00000551956.1:c.59C>A ENSP00000448220.1:p.Ala20Asp
ENST00000552668.1:c.59C>A ENSP00000447320.1:p.Ala20Asp
NM_002272.3:c.59C>A NP_002263.3:p.Ala20Asp
NM_002272.4:c.59C>A MANE Select NP_002263.3:p.Ala20Asp
Search 100 bp 5'
Search 100 bp 3'