Canonical Allele Identifier: CA6590594

Gene: KRT8

Linked Data

• dbSNP Id: rs753945275
• ExAC: 12:53298572 G / A
• gnomAD v2: 12-53298572-G-A
• gnomAD v4: 12-52904788-G-A
• MyVariant Identifiers: chr12:g.53298572G>A (hg19) ; chr12:g.52904788G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52904788G>A , CM000674.2:g.52904788G>A	GRCh38
NC_000012.11:g.53298572G>A , CM000674.1:g.53298572G>A	GRCh37
NC_000012.10:g.51584839G>A	NCBI36
NG_008402.1:g.5297C>T
NG_008402.2:g.50079C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692008.1:c.194C>T MANE Select	ENSP00000509398.1:p.Ala65Val
ENST00000293308.11:c.194C>T	ENSP00000293308.6:p.Ala65Val
ENST00000546542.1:c.428C>T	ENSP00000450228.1:p.Ala143Val
ENST00000546583.5:n.265C>T
ENST00000546826.5:c.194C>T	ENSP00000447881.1:p.Ala65Val
ENST00000546897.5:c.194C>T	ENSP00000447402.1:p.Ala65Val
ENST00000548998.5:c.314C>T	ENSP00000447040.1:p.Ala105Val
ENST00000550170.5:n.257C>T
ENST00000552150.5:c.278C>T	ENSP00000449404.1:p.Ala93Val
ENST00000552551.5:c.194C>T	ENSP00000447566.1:p.Ala65Val
NM_001256282.1:c.278C>T	NP_001243211.1:p.Ala93Val
NM_001256293.1:c.194C>T	NP_001243222.1:p.Ala65Val
NM_002273.3:c.194C>T	NP_002264.1:p.Ala65Val
NR_045962.1:n.651C>T
NM_001256282.2:c.278C>T	NP_001243211.1:p.Ala93Val
NM_001256293.2:c.194C>T	NP_001243222.1:p.Ala65Val
NM_002273.4:c.194C>T MANE Select	NP_002264.1:p.Ala65Val
NR_045962.2:n.645C>T