Canonical Allele Identifier: CA216901

Gene: KRT14

Linked Data

• ClinVar Variation Id: 14619
• ClinVar RCV Id: RCV000015723 ; RCV000056708
• dbSNP Id: rs28928893
• MyVariant Identifiers: chr17:g.39742731A>G (hg19) ; chr17:g.41586479A>G (hg38)
• PubMed: PMID:9804355 ; PMID:20301543

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41586479A>G , CM000679.2:g.41586479A>G	GRCh38
NC_000017.10:g.39742731A>G , CM000679.1:g.39742731A>G	GRCh37
NC_000017.9:g.36996257A>G	NCBI36
NG_008624.1:g.5417T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000167586.7:c.356T>C MANE Select	ENSP00000167586.6:p.Met119Thr
ENST00000167586.6:c.356T>C	ENSP00000167586.6:p.Met119Thr
NM_000526.4:c.356T>C	NP_000517.2:p.Met119Thr
NM_000526.5:c.356T>C MANE Select	NP_000517.3:p.Met119Thr