Canonical Allele Identifier: CA432421793

Gene: VHL

Linked Data

• dbSNP Id: rs1051892430
• MyVariant Identifiers: chr3:g.10188211C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146527C>A , CM000665.2:g.10146527C>A	GRCh38
NC_000003.11:g.10188211C>A , CM000665.1:g.10188211C>A	GRCh37
NC_000003.10:g.10163211C>A	NCBI36
NG_008212.3:g.9893C>A , LRG_322:g.9893C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*31C>A	ENSP00000512434.1:n.*31C>A
ENST00000696143.1:c.600-3260C>A	ENSP00000512435.1:n.600-3260C>A
ENST00000696153.1:c.354C>A	ENSP00000512444.1:p.Leu118=
ENST00000256474.3:c.354C>A MANE Select	ENSP00000256474.3:p.Leu118=
ENST00000256474.2:c.354C>A	ENSP00000256474.2:p.Leu118=
ENST00000345392.2:c.341-3260C>A	ENSP00000344757.2:n.341-3260C>A
ENST00000477538.1:n.490C>A
NM_000551.3:c.354C>A , LRG_322t1:c.354C>A	NP_000542.1:p.Leu118=
NM_198156.2:c.341-3260C>A	NP_937799.1:n.341-3260C>A
XM_011534078.1:c.*31C>A	XP_011532380.1:n.*31C>A
NM_001354723.1:c.*18-3260C>A	NP_001341652.1:n.*18-3260C>A
NM_000551.4:c.354C>A MANE Select	NP_000542.1:p.Leu118=
NM_001354723.2:c.*18-3260C>A	NP_001341652.1:n.*18-3260C>A
NM_198156.3:c.341-3260C>A	NP_937799.1:n.341-3260C>A