Canonical Allele Identifier: CA399483266

Gene: KRT14

Linked Data

• dbSNP Id: rs1340895845
• gnomAD v2: 17-39742933-C-A
• gnomAD v4: 17-41586681-C-A
• MyVariant Identifiers: chr17:g.39742933C>A (hg19) ; chr17:g.41586681C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41586681C>A , CM000679.2:g.41586681C>A	GRCh38
NC_000017.10:g.39742933C>A , CM000679.1:g.39742933C>A	GRCh37
NC_000017.9:g.36996459C>A	NCBI36
NG_008624.1:g.5215G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000167586.7:c.154G>T MANE Select	ENSP00000167586.6:p.Val52Phe
ENST00000167586.6:c.154G>T	ENSP00000167586.6:p.Val52Phe
NM_000526.4:c.154G>T	NP_000517.2:p.Val52Phe
NM_000526.5:c.154G>T MANE Select	NP_000517.3:p.Val52Phe