Canonical Allele Identifier: CA2664400250

Gene: VHL

Linked Data

• gnomAD v4: 3-10150273-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150273G>A , CM000665.2:g.10150273G>A	GRCh38
NC_000003.11:g.10191957G>A , CM000665.1:g.10191957G>A	GRCh37
NC_000003.10:g.10166957G>A	NCBI36
NG_008212.3:g.13639G>A , LRG_322:g.13639G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*627G>A	ENSP00000512434.1:n.*627G>A
ENST00000696143.1:c.1086G>A	ENSP00000512435.1:n.1086G>A
ENST00000696153.1:c.*308G>A	ENSP00000512444.1:n.*308G>A
ENST00000256474.3:c.*308G>A MANE Select	ENSP00000256474.3:n.*308G>A
ENST00000256474.2:c.*308G>A	ENSP00000256474.2:n.*308G>A
ENST00000345392.2:c.*308G>A	ENSP00000344757.2:n.*308G>A
NM_000551.3:c.*308G>A , LRG_322t1:c.*308G>A	NP_000542.1:n.*308G>A
NM_198156.2:c.*308G>A	NP_937799.1:n.*308G>A
NM_001354723.1:c.*504G>A	NP_001341652.1:n.*504G>A
NM_000551.4:c.*308G>A MANE Select	NP_000542.1:n.*308G>A
NM_001354723.2:c.*504G>A	NP_001341652.1:n.*504G>A
NM_198156.3:c.*308G>A	NP_937799.1:n.*308G>A