Canonical Allele Identifier: CA2664400116

Gene: VHL

Linked Data

• gnomAD v4: 3-10150065-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150065G>A , CM000665.2:g.10150065G>A	GRCh38
NC_000003.11:g.10191749G>A , CM000665.1:g.10191749G>A	GRCh37
NC_000003.10:g.10166749G>A	NCBI36
NG_008212.3:g.13431G>A , LRG_322:g.13431G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*419G>A	ENSP00000512434.1:n.*419G>A
ENST00000696143.1:c.878G>A	ENSP00000512435.1:n.878G>A
ENST00000696153.1:c.*100G>A	ENSP00000512444.1:n.*100G>A
ENST00000256474.3:c.*100G>A MANE Select	ENSP00000256474.3:n.*100G>A
ENST00000256474.2:c.*100G>A	ENSP00000256474.2:n.*100G>A
ENST00000345392.2:c.*100G>A	ENSP00000344757.2:n.*100G>A
ENST00000477538.1:n.878G>A
NM_000551.3:c.*100G>A , LRG_322t1:c.*100G>A	NP_000542.1:n.*100G>A
NM_198156.2:c.*100G>A	NP_937799.1:n.*100G>A
NM_001354723.1:c.*296G>A	NP_001341652.1:n.*296G>A
NM_000551.4:c.*100G>A MANE Select	NP_000542.1:n.*100G>A
NM_001354723.2:c.*296G>A	NP_001341652.1:n.*296G>A
NM_198156.3:c.*100G>A	NP_937799.1:n.*100G>A