Canonical Allele Identifier: CA210845

Gene: KRT6B

Linked Data

• ClinVar Variation Id: 14633
• ClinVar RCV Id: RCV000015739 ; RCV000057023
• dbSNP Id: rs60627726
• COSMIC: COSM3398826
• MyVariant Identifiers: chr12:g.52841572C>T (hg19) ; chr12:g.52447788C>T (hg38)
• PubMed: PMID:9618173 ; PMID:16250206

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52447788C>T , CM000674.2:g.52447788C>T	GRCh38
NC_000012.11:g.52841572C>T , CM000674.1:g.52841572C>T	GRCh37
NC_000012.10:g.51127839C>T	NCBI36
NG_008299.1:g.9339G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252252.4:c.1414G>A MANE Select	ENSP00000252252.3:p.Glu472Lys
ENST00000252252.3:c.1414G>A	ENSP00000252252.3:p.Glu472Lys
NM_005555.3:c.1414G>A	NP_005546.2:p.Glu472Lys
NM_005555.4:c.1414G>A MANE Select	NP_005546.2:p.Glu472Lys