Canonical Allele Identifier: CA216919

Gene: KRT14

Linked Data

• ClinVar Variation Id: 14612
• ClinVar RCV Id: RCV000015716 ; RCV000056717 ; RCV000679886 ; RCV001807730 ; RCV002243645
• dbSNP Id: rs60399023
• gnomAD v4: 17-41586462-G-A
• MyVariant Identifiers: chr17:g.39742714G>A (hg19) ; chr17:g.41586462G>A (hg38)
• PubMed: PMID:1717157 ; PMID:10583131 ; PMID:11331879 ; PMID:20301543

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41586462G>A , CM000679.2:g.41586462G>A	GRCh38
NC_000017.10:g.39742714G>A , CM000679.1:g.39742714G>A	GRCh37
NC_000017.9:g.36996240G>A	NCBI36
NG_008624.1:g.5434C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000167586.7:c.373C>T MANE Select	ENSP00000167586.6:p.Arg125Cys
ENST00000167586.6:c.373C>T	ENSP00000167586.6:p.Arg125Cys
NM_000526.4:c.373C>T	NP_000517.2:p.Arg125Cys
NM_000526.5:c.373C>T MANE Select	NP_000517.3:p.Arg125Cys