Canonical Allele Identifier: CA2499216369

Gene: VHL

Linked Data

• ClinVar Variation Id: 1053429
• ClinVar RCV Id: RCV001361771
• dbSNP Id: rs2125126065

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142940G>C , CM000665.2:g.10142940G>C	GRCh38
NC_000003.11:g.10184624G>C , CM000665.1:g.10184624G>C	GRCh37
NC_000003.10:g.10159624G>C	NCBI36
NG_008212.3:g.6306G>C , LRG_322:g.6306G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.518G>C	ENSP00000512434.1:p.Gly173Ala
ENST00000696143.1:c.518G>C	ENSP00000512435.1:p.Gly173Ala
ENST00000696153.1:c.340+753G>C	ENSP00000512444.1:n.340+753G>C
ENST00000256474.3:c.340+753G>C MANE Select	ENSP00000256474.3:n.340+753G>C
ENST00000256474.2:c.340+753G>C	ENSP00000256474.2:n.340+753G>C
ENST00000345392.2:c.340+753G>C	ENSP00000344757.2:n.340+753G>C
ENST00000477538.1:n.395G>C
NM_000551.3:c.340+753G>C , LRG_322t1:c.340+753G>C	NP_000542.1:n.340+753G>C
NM_198156.2:c.340+753G>C	NP_937799.1:n.340+753G>C
XM_011534078.1:c.518G>C	XP_011532380.1:p.Gly173Ala
NM_001354723.1:c.518G>C	NP_001341652.1:p.Gly173Ala
NM_000551.4:c.340+753G>C MANE Select	NP_000542.1:n.340+753G>C
NM_001354723.2:c.518G>C	NP_001341652.1:p.Gly173Ala
NM_198156.3:c.340+753G>C	NP_937799.1:n.340+753G>C