Canonical Allele Identifier: CA118533

Gene: KRT83

Linked Data

• ClinVar Variation Id: 6837
• ClinVar RCV Id: RCV000007239 ; RCV000056954
• dbSNP Id: rs57802288
• gnomAD v2: 12-52709720-C-T
• gnomAD v4: 12-52315936-C-T
• COSMIC: COSM3462212
• MyVariant Identifiers: chr12:g.52709720C>T (hg19) ; chr12:g.52315936C>T (hg38)
• PubMed: PMID:15744029 ; PMID:25557232

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52315936C>T , CM000674.2:g.52315936C>T	GRCh38
NC_000012.11:g.52709720C>T , CM000674.1:g.52709720C>T	GRCh37
NC_000012.10:g.50995987C>T	NCBI36
NG_008352.1:g.10463G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293670.3:c.1219G>A MANE Select	ENSP00000293670.3:p.Glu407Lys
NM_002282.3:c.1219G>A MANE Select	NP_002273.3:p.Glu407Lys