Canonical Allele Identifier: CA70047489

Gene: VHL

Linked Data

• dbSNP Id: rs575076052
• gnomAD v2: 3-10185411-G-A
• gnomAD v3: 3-10143727-G-A
• gnomAD v4: 3-10143727-G-A
• COSMIC: COSN7548496
• MyVariant Identifiers: chr3:g.10185411G>A (hg19) ; chr3:g.10143727G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10143727G>A , CM000665.2:g.10143727G>A	GRCh38
NC_000003.11:g.10185411G>A , CM000665.1:g.10185411G>A	GRCh37
NC_000003.10:g.10160411G>A	NCBI36
NG_008212.3:g.7093G>A , LRG_322:g.7093G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+706G>A	ENSP00000512434.1:n.*17+706G>A
ENST00000696143.1:c.599+706G>A	ENSP00000512435.1:n.599+706G>A
ENST00000696153.1:c.340+1540G>A	ENSP00000512444.1:n.340+1540G>A
ENST00000256474.3:c.340+1540G>A MANE Select	ENSP00000256474.3:n.340+1540G>A
ENST00000256474.2:c.340+1540G>A	ENSP00000256474.2:n.340+1540G>A
ENST00000345392.2:c.340+1540G>A	ENSP00000344757.2:n.340+1540G>A
ENST00000477538.1:n.476+706G>A
NM_000551.3:c.340+1540G>A , LRG_322t1:c.340+1540G>A	NP_000542.1:n.340+1540G>A
NM_198156.2:c.340+1540G>A	NP_937799.1:n.340+1540G>A
XM_011534078.1:c.*17+706G>A	XP_011532380.1:n.*17+706G>A
NM_001354723.1:c.*17+706G>A	NP_001341652.1:n.*17+706G>A
NM_000551.4:c.340+1540G>A MANE Select	NP_000542.1:n.340+1540G>A
NM_001354723.2:c.*17+706G>A	NP_001341652.1:n.*17+706G>A
NM_198156.3:c.340+1540G>A	NP_937799.1:n.340+1540G>A