Canonical Allele Identifier: CA384997019

Gene: KRT8

Linked Data

• gnomAD v4: 12-52904713-T-C
• MyVariant Identifiers: chr12:g.53298497T>C (hg19) ; chr12:g.52904713T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52904713T>C , CM000674.2:g.52904713T>C	GRCh38
NC_000012.11:g.53298497T>C , CM000674.1:g.53298497T>C	GRCh37
NC_000012.10:g.51584764T>C	NCBI36
NG_008402.1:g.5372A>G
NG_008402.2:g.50154A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692008.1:c.269A>G MANE Select	ENSP00000509398.1:p.Gln90Arg
ENST00000293308.11:c.269A>G	ENSP00000293308.6:p.Gln90Arg
ENST00000546542.1:c.503A>G	ENSP00000450228.1:p.Gln168Arg
ENST00000546583.5:n.340A>G
ENST00000546826.5:c.269A>G	ENSP00000447881.1:p.Gln90Arg
ENST00000546897.5:c.269A>G	ENSP00000447402.1:p.Gln90Arg
ENST00000548998.5:c.389A>G	ENSP00000447040.1:p.Gln130Arg
ENST00000550170.5:n.332A>G
ENST00000552150.5:c.353A>G	ENSP00000449404.1:p.Gln118Arg
ENST00000552551.5:c.269A>G	ENSP00000447566.1:p.Gln90Arg
NM_001256282.1:c.353A>G	NP_001243211.1:p.Gln118Arg
NM_001256293.1:c.269A>G	NP_001243222.1:p.Gln90Arg
NM_002273.3:c.269A>G	NP_002264.1:p.Gln90Arg
NR_045962.1:n.726A>G
NM_001256282.2:c.353A>G	NP_001243211.1:p.Gln118Arg
NM_001256293.2:c.269A>G	NP_001243222.1:p.Gln90Arg
NM_002273.4:c.269A>G MANE Select	NP_002264.1:p.Gln90Arg
NR_045962.2:n.720A>G