Canonical Allele Identifier: CA70046734

Gene: VHL

Linked Data

• ClinVar Variation Id: 1169843
• ClinVar RCV Id: RCV001521639 ; RCV003948555
• dbSNP Id: rs866935879
• gnomAD v2: 3-10184550-T-G
• gnomAD v3: 3-10142866-T-G
• gnomAD v4: 3-10142866-T-G
• MyVariant Identifiers: chr3:g.10184550T>G (hg19) ; chr3:g.10142866T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142866T>G , CM000665.2:g.10142866T>G	GRCh38
NC_000003.11:g.10184550T>G , CM000665.1:g.10184550T>G	GRCh37
NC_000003.10:g.10159550T>G	NCBI36
NG_008212.3:g.6232T>G , LRG_322:g.6232T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.444T>G	ENSP00000512434.1:p.Gly148=
ENST00000696143.1:c.444T>G	ENSP00000512435.1:p.Gly148=
ENST00000696153.1:c.340+679T>G	ENSP00000512444.1:n.340+679T>G
ENST00000256474.3:c.340+679T>G MANE Select	ENSP00000256474.3:n.340+679T>G
ENST00000256474.2:c.340+679T>G	ENSP00000256474.2:n.340+679T>G
ENST00000345392.2:c.340+679T>G	ENSP00000344757.2:n.340+679T>G
ENST00000477538.1:n.321T>G
NM_000551.3:c.340+679T>G , LRG_322t1:c.340+679T>G	NP_000542.1:n.340+679T>G
NM_198156.2:c.340+679T>G	NP_937799.1:n.340+679T>G
XM_011534078.1:c.444T>G	XP_011532380.1:p.Gly148=
NM_001354723.1:c.444T>G	NP_001341652.1:p.Gly148=
NM_000551.4:c.340+679T>G MANE Select	NP_000542.1:n.340+679T>G
NM_001354723.2:c.444T>G	NP_001341652.1:p.Gly148=
NM_198156.3:c.340+679T>G	NP_937799.1:n.340+679T>G