Canonical Allele Identifier: CA2664400188

Gene: VHL

Linked Data

• gnomAD v4: 3-10150204-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150204G>A , CM000665.2:g.10150204G>A	GRCh38
NC_000003.11:g.10191888G>A , CM000665.1:g.10191888G>A	GRCh37
NC_000003.10:g.10166888G>A	NCBI36
NG_008212.3:g.13570G>A , LRG_322:g.13570G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*558G>A	ENSP00000512434.1:n.*558G>A
ENST00000696143.1:c.1017G>A	ENSP00000512435.1:n.1017G>A
ENST00000696153.1:c.*239G>A	ENSP00000512444.1:n.*239G>A
ENST00000256474.3:c.*239G>A MANE Select	ENSP00000256474.3:n.*239G>A
ENST00000256474.2:c.*239G>A	ENSP00000256474.2:n.*239G>A
ENST00000345392.2:c.*239G>A	ENSP00000344757.2:n.*239G>A
NM_000551.3:c.*239G>A , LRG_322t1:c.*239G>A	NP_000542.1:n.*239G>A
NM_198156.2:c.*239G>A	NP_937799.1:n.*239G>A
NM_001354723.1:c.*435G>A	NP_001341652.1:n.*435G>A
NM_000551.4:c.*239G>A MANE Select	NP_000542.1:n.*239G>A
NM_001354723.2:c.*435G>A	NP_001341652.1:n.*435G>A
NM_198156.3:c.*239G>A	NP_937799.1:n.*239G>A