Canonical Allele Identifier: CA540877288

Gene: VHL

Linked Data

• dbSNP Id: rs1458258345
• gnomAD v2: 3-10192037-A-G
• gnomAD v3: 3-10150353-A-G
• gnomAD v4: 3-10150353-A-G
• MyVariant Identifiers: chr3:g.10192037A>G (hg19) ; chr3:g.10150353A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150353A>G , CM000665.2:g.10150353A>G	GRCh38
NC_000003.11:g.10192037A>G , CM000665.1:g.10192037A>G	GRCh37
NC_000003.10:g.10167037A>G	NCBI36
NG_008212.3:g.13719A>G , LRG_322:g.13719A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*707A>G	ENSP00000512434.1:n.*707A>G
ENST00000696143.1:c.1166A>G	ENSP00000512435.1:n.1166A>G
ENST00000696153.1:c.*388A>G	ENSP00000512444.1:n.*388A>G
ENST00000256474.3:c.*388A>G MANE Select	ENSP00000256474.3:n.*388A>G
ENST00000256474.2:c.*388A>G	ENSP00000256474.2:n.*388A>G
ENST00000345392.2:c.*388A>G	ENSP00000344757.2:n.*388A>G
NM_000551.3:c.*388A>G , LRG_322t1:c.*388A>G	NP_000542.1:n.*388A>G
NM_198156.2:c.*388A>G	NP_937799.1:n.*388A>G
NM_001354723.1:c.*584A>G	NP_001341652.1:n.*584A>G
NM_000551.4:c.*388A>G MANE Select	NP_000542.1:n.*388A>G
NM_001354723.2:c.*584A>G	NP_001341652.1:n.*584A>G
NM_198156.3:c.*388A>G	NP_937799.1:n.*388A>G