Canonical Allele Identifier: CA70046557

Gene: VHL

Linked Data

• dbSNP Id: rs539163717
• gnomAD v2: 3-10184247-C-A
• gnomAD v3: 3-10142563-C-A
• gnomAD v4: 3-10142563-C-A
• MyVariant Identifiers: chr3:g.10184247C>A (hg19) ; chr3:g.10142563C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142563C>A , CM000665.2:g.10142563C>A	GRCh38
NC_000003.11:g.10184247C>A , CM000665.1:g.10184247C>A	GRCh37
NC_000003.10:g.10159247C>A	NCBI36
NG_008212.3:g.5929C>A , LRG_322:g.5929C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.341-200C>A	ENSP00000512434.1:n.341-200C>A
ENST00000696143.1:c.341-200C>A	ENSP00000512435.1:n.341-200C>A
ENST00000696153.1:c.340+376C>A	ENSP00000512444.1:n.340+376C>A
ENST00000256474.3:c.340+376C>A MANE Select	ENSP00000256474.3:n.340+376C>A
ENST00000256474.2:c.340+376C>A	ENSP00000256474.2:n.340+376C>A
ENST00000345392.2:c.340+376C>A	ENSP00000344757.2:n.340+376C>A
ENST00000477538.1:n.18C>A
NM_000551.3:c.340+376C>A , LRG_322t1:c.340+376C>A	NP_000542.1:n.340+376C>A
NM_198156.2:c.340+376C>A	NP_937799.1:n.340+376C>A
XM_011534078.1:c.341-200C>A	XP_011532380.1:n.341-200C>A
NM_001354723.1:c.341-200C>A	NP_001341652.1:n.341-200C>A
NM_000551.4:c.340+376C>A MANE Select	NP_000542.1:n.340+376C>A
NM_001354723.2:c.341-200C>A	NP_001341652.1:n.341-200C>A
NM_198156.3:c.340+376C>A	NP_937799.1:n.340+376C>A