Canonical Allele Identifier: CA384997047

Gene: KRT8

Linked Data

• MyVariant Identifiers: chr12:g.53298511C>G (hg19) ; chr12:g.52904727C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52904727C>G , CM000674.2:g.52904727C>G	GRCh38
NC_000012.11:g.53298511C>G , CM000674.1:g.53298511C>G	GRCh37
NC_000012.10:g.51584778C>G	NCBI36
NG_008402.1:g.5358G>C
NG_008402.2:g.50140G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692008.1:c.255G>C MANE Select	ENSP00000509398.1:p.Gln85His
ENST00000293308.11:c.255G>C	ENSP00000293308.6:p.Gln85His
ENST00000546542.1:c.489G>C	ENSP00000450228.1:p.Gln163His
ENST00000546583.5:n.326G>C
ENST00000546826.5:c.255G>C	ENSP00000447881.1:p.Gln85His
ENST00000546897.5:c.255G>C	ENSP00000447402.1:p.Gln85His
ENST00000548998.5:c.375G>C	ENSP00000447040.1:p.Gln125His
ENST00000550170.5:n.318G>C
ENST00000552150.5:c.339G>C	ENSP00000449404.1:p.Gln113His
ENST00000552551.5:c.255G>C	ENSP00000447566.1:p.Gln85His
NM_001256282.1:c.339G>C	NP_001243211.1:p.Gln113His
NM_001256293.1:c.255G>C	NP_001243222.1:p.Gln85His
NM_002273.3:c.255G>C	NP_002264.1:p.Gln85His
NR_045962.1:n.712G>C
NM_001256282.2:c.339G>C	NP_001243211.1:p.Gln113His
NM_001256293.2:c.255G>C	NP_001243222.1:p.Gln85His
NM_002273.4:c.255G>C MANE Select	NP_002264.1:p.Gln85His
NR_045962.2:n.706G>C