Canonical Allele Identifier: CA6580826

Gene: KRT6B

Linked Data

• ClinVar Variation Id: 2590968
• ClinVar RCV Id: RCV003365960
• dbSNP Id: rs751774991
• ExAC: 12:52845379 C / T
• gnomAD v2: 12-52845379-C-T
• gnomAD v3: 12-52451595-C-T
• gnomAD v4: 12-52451595-C-T
• COSMIC: COSM4854508
• MyVariant Identifiers: chr12:g.52845379C>T (hg19) ; chr12:g.52451595C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52451595C>T , CM000674.2:g.52451595C>T	GRCh38
NC_000012.11:g.52845379C>T , CM000674.1:g.52845379C>T	GRCh37
NC_000012.10:g.51131646C>T	NCBI36
NG_008299.1:g.5532G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252252.4:c.484G>A MANE Select	ENSP00000252252.3:p.Glu162Lys
ENST00000252252.3:c.484G>A	ENSP00000252252.3:p.Glu162Lys
NM_005555.3:c.484G>A	NP_005546.2:p.Glu162Lys
NM_005555.4:c.484G>A MANE Select	NP_005546.2:p.Glu162Lys