Canonical Allele Identifier: CA540875884

Gene: VHL

Linked Data

• ClinVar Variation Id: 1006425
• ClinVar RCV Id: RCV001303468
• dbSNP Id: rs1379155896
• gnomAD v2: 3-10184489-T-G
• gnomAD v3: 3-10142805-T-G
• gnomAD v4: 3-10142805-T-G
• MyVariant Identifiers: chr3:g.10184489T>G (hg19) ; chr3:g.10142805T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142805T>G , CM000665.2:g.10142805T>G	GRCh38
NC_000003.11:g.10184489T>G , CM000665.1:g.10184489T>G	GRCh37
NC_000003.10:g.10159489T>G	NCBI36
NG_008212.3:g.6171T>G , LRG_322:g.6171T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.383T>G	ENSP00000512434.1:p.Leu128Arg
ENST00000696143.1:c.383T>G	ENSP00000512435.1:p.Leu128Arg
ENST00000696153.1:c.340+618T>G	ENSP00000512444.1:n.340+618T>G
ENST00000256474.3:c.340+618T>G MANE Select	ENSP00000256474.3:n.340+618T>G
ENST00000256474.2:c.340+618T>G	ENSP00000256474.2:n.340+618T>G
ENST00000345392.2:c.340+618T>G	ENSP00000344757.2:n.340+618T>G
ENST00000477538.1:n.260T>G
NM_000551.3:c.340+618T>G , LRG_322t1:c.340+618T>G	NP_000542.1:n.340+618T>G
NM_198156.2:c.340+618T>G	NP_937799.1:n.340+618T>G
XM_011534078.1:c.383T>G	XP_011532380.1:p.Leu128Arg
NM_001354723.1:c.383T>G	NP_001341652.1:p.Leu128Arg
NM_000551.4:c.340+618T>G MANE Select	NP_000542.1:n.340+618T>G
NM_001354723.2:c.383T>G	NP_001341652.1:p.Leu128Arg
NM_198156.3:c.340+618T>G	NP_937799.1:n.340+618T>G