Canonical Allele Identifier: CA384997158

Gene: KRT8

Linked Data

• gnomAD v4: 12-52904779-A-G
• MyVariant Identifiers: chr12:g.53298563A>G (hg19) ; chr12:g.52904779A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52904779A>G , CM000674.2:g.52904779A>G	GRCh38
NC_000012.11:g.53298563A>G , CM000674.1:g.53298563A>G	GRCh37
NC_000012.10:g.51584830A>G	NCBI36
NG_008402.1:g.5306T>C
NG_008402.2:g.50088T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692008.1:c.203T>C MANE Select	ENSP00000509398.1:p.Val68Ala
ENST00000293308.11:c.203T>C	ENSP00000293308.6:p.Val68Ala
ENST00000546542.1:c.437T>C	ENSP00000450228.1:p.Val146Ala
ENST00000546583.5:n.274T>C
ENST00000546826.5:c.203T>C	ENSP00000447881.1:p.Val68Ala
ENST00000546897.5:c.203T>C	ENSP00000447402.1:p.Val68Ala
ENST00000548998.5:c.323T>C	ENSP00000447040.1:p.Val108Ala
ENST00000550170.5:n.266T>C
ENST00000552150.5:c.287T>C	ENSP00000449404.1:p.Val96Ala
ENST00000552551.5:c.203T>C	ENSP00000447566.1:p.Val68Ala
NM_001256282.1:c.287T>C	NP_001243211.1:p.Val96Ala
NM_001256293.1:c.203T>C	NP_001243222.1:p.Val68Ala
NM_002273.3:c.203T>C	NP_002264.1:p.Val68Ala
NR_045962.1:n.660T>C
NM_001256282.2:c.287T>C	NP_001243211.1:p.Val96Ala
NM_001256293.2:c.203T>C	NP_001243222.1:p.Val68Ala
NM_002273.4:c.203T>C MANE Select	NP_002264.1:p.Val68Ala
NR_045962.2:n.654T>C