Canonical Allele Identifier: CA8562539

Gene: KRT14

Linked Data

• dbSNP Id: rs199651076
• ExAC: 17:39739849 C / T
• gnomAD v2: 17-39739849-C-T
• gnomAD v3: 17-41583597-C-T
• gnomAD v4: 17-41583597-C-T
• COSMIC: COSM6457576
• MyVariant Identifiers: chr17:g.39739849C>T (hg19) ; chr17:g.41583597C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41583597C>T , CM000679.2:g.41583597C>T	GRCh38
NC_000017.10:g.39739849C>T , CM000679.1:g.39739849C>T	GRCh37
NC_000017.9:g.36993375C>T	NCBI36
NG_008624.1:g.8299G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000167586.7:c.1007G>A MANE Select	ENSP00000167586.6:p.Arg336His
ENST00000167586.6:c.1007G>A	ENSP00000167586.6:p.Arg336His
ENST00000476662.1:n.457G>A
NM_000526.4:c.1007G>A	NP_000517.2:p.Arg336His
NM_000526.5:c.1007G>A MANE Select	NP_000517.3:p.Arg336His