Canonical Allele Identifier: CA432423397

Gene: VHL

Linked Data

• ClinVar Variation Id: 1745991
• ClinVar RCV Id: RCV002338583 ; RCV003776064 ; RCV004005685
• dbSNP Id: rs1696359154
• MyVariant Identifiers: chr3:g.10191526G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149842G>A , CM000665.2:g.10149842G>A	GRCh38
NC_000003.11:g.10191526G>A , CM000665.1:g.10191526G>A	GRCh37
NC_000003.10:g.10166526G>A	NCBI36
NG_008212.3:g.13208G>A , LRG_322:g.13208G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*196G>A	ENSP00000512434.1:n.*196G>A
ENST00000696143.1:c.655G>A	ENSP00000512435.1:n.655G>A
ENST00000696153.1:c.630G>A	ENSP00000512444.1:p.Glu210=
ENST00000256474.3:c.519G>A MANE Select	ENSP00000256474.3:p.Glu173=
ENST00000256474.2:c.519G>A	ENSP00000256474.2:p.Glu173=
ENST00000345392.2:c.396G>A	ENSP00000344757.2:p.Glu132=
ENST00000477538.1:n.655G>A
NM_000551.3:c.519G>A , LRG_322t1:c.519G>A	NP_000542.1:p.Glu173=
NM_198156.2:c.396G>A	NP_937799.1:p.Glu132=
NM_001354723.1:c.*73G>A	NP_001341652.1:n.*73G>A
NM_000551.4:c.519G>A MANE Select	NP_000542.1:p.Glu173=
NM_001354723.2:c.*73G>A	NP_001341652.1:n.*73G>A
NM_198156.3:c.396G>A	NP_937799.1:p.Glu132=