Canonical Allele Identifier: CA217366

Gene: KRT6B

Linked Data

• ClinVar Variation Id: 66599
• ClinVar RCV Id: RCV000057022 ; RCV002483085
• dbSNP Id: rs267607473
• COSMIC: COSM5935890
• MyVariant Identifiers: chr12:g.52841605C>T (hg19) ; chr12:g.52447821C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52447821C>T , CM000674.2:g.52447821C>T	GRCh38
NC_000012.11:g.52841605C>T , CM000674.1:g.52841605C>T	GRCh37
NC_000012.10:g.51127872C>T	NCBI36
NG_008299.1:g.9306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252252.4:c.1381G>A MANE Select	ENSP00000252252.3:p.Glu461Lys
ENST00000252252.3:c.1381G>A	ENSP00000252252.3:p.Glu461Lys
NM_005555.3:c.1381G>A	NP_005546.2:p.Glu461Lys
NM_005555.4:c.1381G>A MANE Select	NP_005546.2:p.Glu461Lys