Canonical Allele Identifier: CA8562587

Gene: KRT14

Linked Data

• dbSNP Id: rs754774256
• ExAC: 17:39740070 T / A
• gnomAD v2: 17-39740070-T-A
• gnomAD v3: 17-41583818-T-A
• gnomAD v4: 17-41583818-T-A
• MyVariant Identifiers: chr17:g.39740070T>A (hg19) ; chr17:g.41583818T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41583818T>A , CM000679.2:g.41583818T>A	GRCh38
NC_000017.10:g.39740070T>A , CM000679.1:g.39740070T>A	GRCh37
NC_000017.9:g.36993596T>A	NCBI36
NG_008624.1:g.8078A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000167586.7:c.869A>T MANE Select	ENSP00000167586.6:p.Gln290Leu
ENST00000167586.6:c.869A>T	ENSP00000167586.6:p.Gln290Leu
ENST00000476662.1:n.319A>T
NM_000526.4:c.869A>T	NP_000517.2:p.Gln290Leu
NM_000526.5:c.869A>T MANE Select	NP_000517.3:p.Gln290Leu