Canonical Allele Identifier: CA384997126

Gene: KRT8

Linked Data

• ClinVar Variation Id: 3116703
• ClinVar RCV Id: RCV004414551
• MyVariant Identifiers: chr12:g.53298548A>C (hg19) ; chr12:g.52904764A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52904764A>C , CM000674.2:g.52904764A>C	GRCh38
NC_000012.11:g.53298548A>C , CM000674.1:g.53298548A>C	GRCh37
NC_000012.10:g.51584815A>C	NCBI36
NG_008402.1:g.5321T>G
NG_008402.2:g.50103T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692008.1:c.218T>G MANE Select	ENSP00000509398.1:p.Leu73Arg
ENST00000293308.11:c.218T>G	ENSP00000293308.6:p.Leu73Arg
ENST00000546542.1:c.452T>G	ENSP00000450228.1:p.Leu151Arg
ENST00000546583.5:n.289T>G
ENST00000546826.5:c.218T>G	ENSP00000447881.1:p.Leu73Arg
ENST00000546897.5:c.218T>G	ENSP00000447402.1:p.Leu73Arg
ENST00000548998.5:c.338T>G	ENSP00000447040.1:p.Leu113Arg
ENST00000550170.5:n.281T>G
ENST00000552150.5:c.302T>G	ENSP00000449404.1:p.Leu101Arg
ENST00000552551.5:c.218T>G	ENSP00000447566.1:p.Leu73Arg
NM_001256282.1:c.302T>G	NP_001243211.1:p.Leu101Arg
NM_001256293.1:c.218T>G	NP_001243222.1:p.Leu73Arg
NM_002273.3:c.218T>G	NP_002264.1:p.Leu73Arg
NR_045962.1:n.675T>G
NM_001256282.2:c.302T>G	NP_001243211.1:p.Leu101Arg
NM_001256293.2:c.218T>G	NP_001243222.1:p.Leu73Arg
NM_002273.4:c.218T>G MANE Select	NP_002264.1:p.Leu73Arg
NR_045962.2:n.669T>G