Canonical Allele Identifier: CA384997163

Gene: KRT8

Linked Data

• dbSNP Id: rs1407319102
• gnomAD v2: 12-53298566-G-T
• gnomAD v4: 12-52904782-G-T
• MyVariant Identifiers: chr12:g.53298566G>T (hg19) ; chr12:g.52904782G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52904782G>T , CM000674.2:g.52904782G>T	GRCh38
NC_000012.11:g.53298566G>T , CM000674.1:g.53298566G>T	GRCh37
NC_000012.10:g.51584833G>T	NCBI36
NG_008402.1:g.5303C>A
NG_008402.2:g.50085C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692008.1:c.200C>A MANE Select	ENSP00000509398.1:p.Thr67Lys
ENST00000293308.11:c.200C>A	ENSP00000293308.6:p.Thr67Lys
ENST00000546542.1:c.434C>A	ENSP00000450228.1:p.Thr145Lys
ENST00000546583.5:n.271C>A
ENST00000546826.5:c.200C>A	ENSP00000447881.1:p.Thr67Lys
ENST00000546897.5:c.200C>A	ENSP00000447402.1:p.Thr67Lys
ENST00000548998.5:c.320C>A	ENSP00000447040.1:p.Thr107Lys
ENST00000550170.5:n.263C>A
ENST00000552150.5:c.284C>A	ENSP00000449404.1:p.Thr95Lys
ENST00000552551.5:c.200C>A	ENSP00000447566.1:p.Thr67Lys
NM_001256282.1:c.284C>A	NP_001243211.1:p.Thr95Lys
NM_001256293.1:c.200C>A	NP_001243222.1:p.Thr67Lys
NM_002273.3:c.200C>A	NP_002264.1:p.Thr67Lys
NR_045962.1:n.657C>A
NM_001256282.2:c.284C>A	NP_001243211.1:p.Thr95Lys
NM_001256293.2:c.200C>A	NP_001243222.1:p.Thr67Lys
NM_002273.4:c.200C>A MANE Select	NP_002264.1:p.Thr67Lys
NR_045962.2:n.651C>A