Canonical Allele Identifier: CA1345067140

Gene: VHL

Linked Data

• ClinVar Variation Id: 1002607
• ClinVar RCV Id: RCV001299056
• dbSNP Id: rs1696158160
• gnomAD v4: 3-10142775-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142775C>A , CM000665.2:g.10142775C>A	GRCh38
NC_000003.11:g.10184459C>A , CM000665.1:g.10184459C>A	GRCh37
NC_000003.10:g.10159459C>A	NCBI36
NG_008212.3:g.6141C>A , LRG_322:g.6141C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.353C>A	ENSP00000512434.1:p.Pro118Gln
ENST00000696143.1:c.353C>A	ENSP00000512435.1:p.Pro118Gln
ENST00000696153.1:c.340+588C>A	ENSP00000512444.1:n.340+588C>A
ENST00000256474.3:c.340+588C>A MANE Select	ENSP00000256474.3:n.340+588C>A
ENST00000256474.2:c.340+588C>A	ENSP00000256474.2:n.340+588C>A
ENST00000345392.2:c.340+588C>A	ENSP00000344757.2:n.340+588C>A
ENST00000477538.1:n.230C>A
NM_000551.3:c.340+588C>A , LRG_322t1:c.340+588C>A	NP_000542.1:n.340+588C>A
NM_198156.2:c.340+588C>A	NP_937799.1:n.340+588C>A
XM_011534078.1:c.353C>A	XP_011532380.1:p.Pro118Gln
NM_001354723.1:c.353C>A	NP_001341652.1:p.Pro118Gln
NM_000551.4:c.340+588C>A MANE Select	NP_000542.1:n.340+588C>A
NM_001354723.2:c.353C>A	NP_001341652.1:p.Pro118Gln
NM_198156.3:c.340+588C>A	NP_937799.1:n.340+588C>A