Canonical Allele Identifier: CA151187

Gene: KRT6C

Linked Data

• ClinVar Variation Id: 126527
• ClinVar RCV Id: RCV000114418 ; RCV000255266
• dbSNP Id: rs587777292
• gnomAD v4: 12-52469680-C-T
• MyVariant Identifiers: chr12:g.52863464C>T (hg19) ; chr12:g.52469680C>T (hg38)
• PubMed: PMID:19609311 ; PMID:23662636

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52469680C>T , CM000674.2:g.52469680C>T	GRCh38
NC_000012.11:g.52863464C>T , CM000674.1:g.52863464C>T	GRCh37
NC_000012.10:g.51149731C>T	NCBI36
NG_012416.1:g.9106G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252250.7:c.1414G>A MANE Select	ENSP00000252250.6:p.Glu472Lys
ENST00000252250.6:c.1414G>A	ENSP00000252250.6:p.Glu472Lys
NM_173086.4:c.1414G>A	NP_775109.2:p.Glu472Lys
NM_173086.5:c.1414G>A MANE Select	NP_775109.2:p.Glu472Lys