Canonical Allele Identifier: CA216858
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 66320
ClinVar RCV Id: RCV000056683
dbSNP Id: rs59780231

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583272C>G , CM000679.2:g.41583272C>G GRCh38
NC_000017.10:g.39739524C>G , CM000679.1:g.39739524C>G GRCh37
NC_000017.9:g.36993050C>G NCBI36
NG_008624.1:g.8624G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000167586.7:c.1237G>C MANE Select ENSP00000167586.6:p.Ala413Pro
ENST00000167586.6:c.1237G>C ENSP00000167586.6:p.Ala413Pro
ENST00000441550.2:n.184G>C
ENST00000476662.1:n.687G>C
NM_000526.4:c.1237G>C NP_000517.2:p.Ala413Pro
NM_000526.5:c.1237G>C MANE Select NP_000517.3:p.Ala413Pro