Canonical Allele Identifier: CA540875329

Gene: VHL

Linked Data

• dbSNP Id: rs1217074130
• gnomAD v2: 3-10183240-T-A
• gnomAD v3: 3-10141556-T-A
• gnomAD v4: 3-10141556-T-A
• MyVariant Identifiers: chr3:g.10183240T>A (hg19) ; chr3:g.10141556T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141556T>A , CM000665.2:g.10141556T>A	GRCh38
NC_000003.11:g.10183240T>A , CM000665.1:g.10183240T>A	GRCh37
NC_000003.10:g.10158240T>A	NCBI36
NG_008212.3:g.4922T>A , LRG_322:g.4922T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256474.2:c.-292T>A	ENSP00000256474.2:n.-292T>A