Canonical Allele Identifier: CA351751314

Gene: VHL

Linked Data

• ClinVar Variation Id: 1054464
• ClinVar RCV Id: RCV001362968
• dbSNP Id: rs2125125380
• gnomAD v4: 3-10142176-A-G
• COSMIC: COSM5736516
• MyVariant Identifiers: chr3:g.10183860A>G (hg19) ; chr3:g.10142176A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142176A>G , CM000665.2:g.10142176A>G	GRCh38
NC_000003.11:g.10183860A>G , CM000665.1:g.10183860A>G	GRCh37
NC_000003.10:g.10158860A>G	NCBI36
NG_008212.3:g.5542A>G , LRG_322:g.5542A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.329A>G	ENSP00000512434.1:p.His110Arg
ENST00000696143.1:c.329A>G	ENSP00000512435.1:p.His110Arg
ENST00000696153.1:c.329A>G	ENSP00000512444.1:p.His110Arg
ENST00000256474.3:c.329A>G MANE Select	ENSP00000256474.3:p.His110Arg
ENST00000256474.2:c.329A>G	ENSP00000256474.2:p.His110Arg
ENST00000345392.2:c.329A>G	ENSP00000344757.2:p.His110Arg
NM_000551.3:c.329A>G , LRG_322t1:c.329A>G	NP_000542.1:p.His110Arg
NM_198156.2:c.329A>G	NP_937799.1:p.His110Arg
XM_011534078.1:c.329A>G	XP_011532380.1:p.His110Arg
NM_001354723.1:c.329A>G	NP_001341652.1:p.His110Arg
NM_000551.4:c.329A>G MANE Select	NP_000542.1:p.His110Arg
NM_001354723.2:c.329A>G	NP_001341652.1:p.His110Arg
NM_198156.3:c.329A>G	NP_937799.1:p.His110Arg