Canonical Allele Identifier: CA6577430

Gene: KRT83

Linked Data

• ClinVar Variation Id: 309508
• ClinVar RCV Id: RCV000277622 ; RCV004021546
• dbSNP Id: rs553152302
• ExAC: 12:52710275 C / T
• gnomAD v2: 12-52710275-C-T
• gnomAD v3: 12-52316491-C-T
• gnomAD v4: 12-52316491-C-T
• COSMIC: COSM5841284
• MyVariant Identifiers: chr12:g.52710275C>T (hg19) ; chr12:g.52316491C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52316491C>T , CM000674.2:g.52316491C>T	GRCh38
NC_000012.11:g.52710275C>T , CM000674.1:g.52710275C>T	GRCh37
NC_000012.10:g.50996542C>T	NCBI36
NG_008352.1:g.9908G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293670.3:c.1018G>A MANE Select	ENSP00000293670.3:p.Glu340Lys
NM_002282.3:c.1018G>A MANE Select	NP_002273.3:p.Glu340Lys