Canonical Allele Identifier: CA384996991

Gene: KRT8

Linked Data

• gnomAD v4: 12-52904702-G-C
• MyVariant Identifiers: chr12:g.53298486G>C (hg19) ; chr12:g.52904702G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52904702G>C , CM000674.2:g.52904702G>C	GRCh38
NC_000012.11:g.53298486G>C , CM000674.1:g.53298486G>C	GRCh37
NC_000012.10:g.51584753G>C	NCBI36
NG_008402.1:g.5383C>G
NG_008402.2:g.50165C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692008.1:c.280C>G MANE Select	ENSP00000509398.1:p.Gln94Glu
ENST00000293308.11:c.280C>G	ENSP00000293308.6:p.Gln94Glu
ENST00000546542.1:c.514C>G	ENSP00000450228.1:p.Gln172Glu
ENST00000546583.5:n.351C>G
ENST00000546826.5:c.280C>G	ENSP00000447881.1:p.Gln94Glu
ENST00000546897.5:c.280C>G	ENSP00000447402.1:p.Gln94Glu
ENST00000548998.5:c.400C>G	ENSP00000447040.1:p.Gln134Glu
ENST00000550170.5:n.343C>G
ENST00000552150.5:c.364C>G	ENSP00000449404.1:p.Gln122Glu
ENST00000552551.5:c.280C>G	ENSP00000447566.1:p.Gln94Glu
NM_001256282.1:c.364C>G	NP_001243211.1:p.Gln122Glu
NM_001256293.1:c.280C>G	NP_001243222.1:p.Gln94Glu
NM_002273.3:c.280C>G	NP_002264.1:p.Gln94Glu
NR_045962.1:n.737C>G
NM_001256282.2:c.364C>G	NP_001243211.1:p.Gln122Glu
NM_001256293.2:c.280C>G	NP_001243222.1:p.Gln94Glu
NM_002273.4:c.280C>G MANE Select	NP_002264.1:p.Gln94Glu
NR_045962.2:n.731C>G