Canonical Allele Identifier: CA351747414

Gene: VHL

Linked Data

• ClinVar Variation Id: 1372717
• ClinVar RCV Id: RCV001874775 ; RCV003164225
• dbSNP Id: rs1438223626
• gnomAD v4: 3-10141917-G-C
• MyVariant Identifiers: chr3:g.10183601G>C (hg19) ; chr3:g.10141917G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141917G>C , CM000665.2:g.10141917G>C	GRCh38
NC_000003.11:g.10183601G>C , CM000665.1:g.10183601G>C	GRCh37
NC_000003.10:g.10158601G>C	NCBI36
NG_008212.3:g.5283G>C , LRG_322:g.5283G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.70G>C	ENSP00000512434.1:p.Gly24Arg
ENST00000696143.1:c.70G>C	ENSP00000512435.1:p.Gly24Arg
ENST00000696153.1:c.70G>C	ENSP00000512444.1:p.Gly24Arg
ENST00000256474.3:c.70G>C MANE Select	ENSP00000256474.3:p.Gly24Arg
ENST00000256474.2:c.70G>C	ENSP00000256474.2:p.Gly24Arg
ENST00000345392.2:c.70G>C	ENSP00000344757.2:p.Gly24Arg
NM_000551.3:c.70G>C , LRG_322t1:c.70G>C	NP_000542.1:p.Gly24Arg
NM_198156.2:c.70G>C	NP_937799.1:p.Gly24Arg
XM_011534078.1:c.70G>C	XP_011532380.1:p.Gly24Arg
NM_001354723.1:c.70G>C	NP_001341652.1:p.Gly24Arg
NM_000551.4:c.70G>C MANE Select	NP_000542.1:p.Gly24Arg
NM_001354723.2:c.70G>C	NP_001341652.1:p.Gly24Arg
NM_198156.3:c.70G>C	NP_937799.1:p.Gly24Arg