Canonical Allele Identifier: CA351747095

Gene: VHL

Linked Data

• ClinVar Variation Id: 1005487
• ClinVar RCV Id: RCV001302369
• dbSNP Id: rs786204065
• gnomAD v4: 3-10141876-A-G
• COSMIC: COSM14338
• MyVariant Identifiers: chr3:g.10183560A>G (hg19) ; chr3:g.10141876A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141876A>G , CM000665.2:g.10141876A>G	GRCh38
NC_000003.11:g.10183560A>G , CM000665.1:g.10183560A>G	GRCh37
NC_000003.10:g.10158560A>G	NCBI36
NG_008212.3:g.5242A>G , LRG_322:g.5242A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.29A>G	ENSP00000512434.1:p.Glu10Gly
ENST00000696143.1:c.29A>G	ENSP00000512435.1:p.Glu10Gly
ENST00000696153.1:c.29A>G	ENSP00000512444.1:p.Glu10Gly
ENST00000256474.3:c.29A>G MANE Select	ENSP00000256474.3:p.Glu10Gly
ENST00000256474.2:c.29A>G	ENSP00000256474.2:p.Glu10Gly
ENST00000345392.2:c.29A>G	ENSP00000344757.2:p.Glu10Gly
NM_000551.3:c.29A>G , LRG_322t1:c.29A>G	NP_000542.1:p.Glu10Gly
NM_198156.2:c.29A>G	NP_937799.1:p.Glu10Gly
XM_011534078.1:c.29A>G	XP_011532380.1:p.Glu10Gly
NM_001354723.1:c.29A>G	NP_001341652.1:p.Glu10Gly
NM_000551.4:c.29A>G MANE Select	NP_000542.1:p.Glu10Gly
NM_001354723.2:c.29A>G	NP_001341652.1:p.Glu10Gly
NM_198156.3:c.29A>G	NP_937799.1:p.Glu10Gly