Canonical Allele Identifier: CA384927085

Gene: KRT6B

Linked Data

• dbSNP Id: rs1460687951
• gnomAD v2: 12-52845365-C-G
• gnomAD v4: 12-52451581-C-G
• MyVariant Identifiers: chr12:g.52845365C>G (hg19) ; chr12:g.52451581C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52451581C>G , CM000674.2:g.52451581C>G	GRCh38
NC_000012.11:g.52845365C>G , CM000674.1:g.52845365C>G	GRCh37
NC_000012.10:g.51131632C>G	NCBI36
NG_008299.1:g.5546G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252252.4:c.498G>C MANE Select	ENSP00000252252.3:p.Gln166His
ENST00000252252.3:c.498G>C	ENSP00000252252.3:p.Gln166His
NM_005555.3:c.498G>C	NP_005546.2:p.Gln166His
NM_005555.4:c.498G>C MANE Select	NP_005546.2:p.Gln166His