Canonical Allele Identifier: CA216852
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 66317
ClinVar RCV Id: RCV000056680
dbSNP Id: rs267607403

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583275T>A , CM000679.2:g.41583275T>A GRCh38
NC_000017.10:g.39739527T>A , CM000679.1:g.39739527T>A GRCh37
NC_000017.9:g.36993053T>A NCBI36
NG_008624.1:g.8621A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.1234A>T MANE Select ENSP00000167586.6:p.Ile412Phe
ENST00000167586.6:c.1234A>T ENSP00000167586.6:p.Ile412Phe
ENST00000441550.2:n.181A>T
ENST00000476662.1:n.684A>T
NM_000526.4:c.1234A>T NP_000517.2:p.Ile412Phe
NM_000526.5:c.1234A>T MANE Select NP_000517.3:p.Ile412Phe