Canonical Allele Identifier: CA124159

Gene: KRT14

Linked Data

• ClinVar Variation Id: 14626
• ClinVar RCV Id: RCV000015731 ; RCV000056744
• dbSNP Id: rs60831116
• gnomAD v2: 17-39743033-G-T
• gnomAD v4: 17-41586781-G-T
• MyVariant Identifiers: chr17:g.39743033G>T (hg19) ; chr17:g.41586781G>T (hg38)
• PubMed: PMID:1303619 ; PMID:16960809

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41586781G>T , CM000679.2:g.41586781G>T	GRCh38
NC_000017.10:g.39743033G>T , CM000679.1:g.39743033G>T	GRCh37
NC_000017.9:g.36996559G>T	NCBI36
NG_008624.1:g.5115C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000167586.7:c.54C>A MANE Select	ENSP00000167586.6:p.Cys18Ter
ENST00000167586.6:c.54C>A	ENSP00000167586.6:p.Cys18Ter
NM_000526.4:c.54C>A	NP_000517.2:p.Cys18Ter
NM_000526.5:c.54C>A MANE Select	NP_000517.3:p.Cys18Ter