Canonical Allele Identifier: CA351748642

Gene: VHL

Linked Data

• ClinVar Variation Id: 486719
• ClinVar RCV Id: RCV000567236 ; RCV001308464
• dbSNP Id: rs1553619400
• gnomAD v4: 3-10142020-G-A
• MyVariant Identifiers: chr3:g.10183704G>A (hg19) ; chr3:g.10142020G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142020G>A , CM000665.2:g.10142020G>A	GRCh38
NC_000003.11:g.10183704G>A , CM000665.1:g.10183704G>A	GRCh37
NC_000003.10:g.10158704G>A	NCBI36
NG_008212.3:g.5386G>A , LRG_322:g.5386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.173G>A	ENSP00000512434.1:p.Arg58Gln
ENST00000696143.1:c.173G>A	ENSP00000512435.1:p.Arg58Gln
ENST00000696153.1:c.173G>A	ENSP00000512444.1:p.Arg58Gln
ENST00000256474.3:c.173G>A MANE Select	ENSP00000256474.3:p.Arg58Gln
ENST00000256474.2:c.173G>A	ENSP00000256474.2:p.Arg58Gln
ENST00000345392.2:c.173G>A	ENSP00000344757.2:p.Arg58Gln
NM_000551.3:c.173G>A , LRG_322t1:c.173G>A	NP_000542.1:p.Arg58Gln
NM_198156.2:c.173G>A	NP_937799.1:p.Arg58Gln
XM_011534078.1:c.173G>A	XP_011532380.1:p.Arg58Gln
NM_001354723.1:c.173G>A	NP_001341652.1:p.Arg58Gln
NM_000551.4:c.173G>A MANE Select	NP_000542.1:p.Arg58Gln
NM_001354723.2:c.173G>A	NP_001341652.1:p.Arg58Gln
NM_198156.3:c.173G>A	NP_937799.1:p.Arg58Gln