Canonical Allele Identifier: CA290664907

Gene: KRT14

Linked Data

• dbSNP Id: rs996973611
• gnomAD v2: 17-39739762-G-A
• gnomAD v3: 17-41583510-G-A
• gnomAD v4: 17-41583510-G-A
• MyVariant Identifiers: chr17:g.39739762G>A (hg19) ; chr17:g.41583510G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41583510G>A , CM000679.2:g.41583510G>A	GRCh38
NC_000017.10:g.39739762G>A , CM000679.1:g.39739762G>A	GRCh37
NC_000017.9:g.36993288G>A	NCBI36
NG_008624.1:g.8386C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000167586.7:c.1053+41C>T MANE Select	ENSP00000167586.6:n.1053+41C>T
ENST00000167586.6:c.1053+41C>T	ENSP00000167586.6:n.1053+41C>T
ENST00000476662.1:n.503+41C>T
NM_000526.4:c.1053+41C>T	NP_000517.2:n.1053+41C>T
NM_000526.5:c.1053+41C>T MANE Select	NP_000517.3:n.1053+41C>T