Canonical Allele Identifier: CA217366
Gene: KRT6B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 66599
ClinVar RCV Id: RCV000057022
dbSNP Id: rs267607473

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
NM_005555.3:c.1381G>A VV NP_005546.2:p.Glu461Lys
NM_005555.4:c.1381G>A VV MANE Preferred
ENST00000252252.3:c.1381G>A ENSP00000252252.3:p.Glu461Lys