Canonical Allele Identifier: CA70041945

Gene: VHL

Linked Data

• dbSNP Id: rs950506472
• gnomAD v3: 3-10141757-G-A
• gnomAD v4: 3-10141757-G-A
• MyVariant Identifiers: chr3:g.10183441G>A (hg19) ; chr3:g.10141757G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141757G>A , CM000665.2:g.10141757G>A	GRCh38
NC_000003.11:g.10183441G>A , CM000665.1:g.10183441G>A	GRCh37
NC_000003.10:g.10158441G>A	NCBI36
NG_008212.3:g.5123G>A , LRG_322:g.5123G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000256474.2:c.-91G>A	ENSP00000256474.2:n.-91G>A
NM_000551.3:c.-91G>A , LRG_322t1:c.-91G>A	NP_000542.1:n.-91G>A
NM_198156.2:c.-91G>A	NP_937799.1:n.-91G>A
NM_001354723.1:c.-91G>A	NP_001341652.1:n.-91G>A