Canonical Allele Identifier: CA432423864

Gene: VHL

Linked Data

• ClinVar Variation Id: 1908404
• ClinVar RCV Id: RCV002584179 ; RCV004064568
• dbSNP Id: rs1291540947
• MyVariant Identifiers: chr3:g.10191610G>C (hg19) ; chr3:g.10149926G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149926G>C , CM000665.2:g.10149926G>C	GRCh38
NC_000003.11:g.10191610G>C , CM000665.1:g.10191610G>C	GRCh37
NC_000003.10:g.10166610G>C	NCBI36
NG_008212.3:g.13292G>C , LRG_322:g.13292G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*280G>C	ENSP00000512434.1:n.*280G>C
ENST00000696143.1:c.739G>C	ENSP00000512435.1:n.739G>C
ENST00000696153.1:c.714G>C	ENSP00000512444.1:p.Leu238=
ENST00000256474.3:c.603G>C MANE Select	ENSP00000256474.3:p.Leu201=
ENST00000256474.2:c.603G>C	ENSP00000256474.2:p.Leu201=
ENST00000345392.2:c.480G>C	ENSP00000344757.2:p.Leu160=
ENST00000477538.1:n.739G>C
NM_000551.3:c.603G>C , LRG_322t1:c.603G>C	NP_000542.1:p.Leu201=
NM_198156.2:c.480G>C	NP_937799.1:p.Leu160=
NM_001354723.1:c.*157G>C	NP_001341652.1:n.*157G>C
NM_000551.4:c.603G>C MANE Select	NP_000542.1:p.Leu201=
NM_001354723.2:c.*157G>C	NP_001341652.1:n.*157G>C
NM_198156.3:c.480G>C	NP_937799.1:p.Leu160=