Canonical Allele Identifier: CA2664400171

Gene: VHL

Linked Data

• gnomAD v4: 3-10150183-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150183A>G , CM000665.2:g.10150183A>G	GRCh38
NC_000003.11:g.10191867A>G , CM000665.1:g.10191867A>G	GRCh37
NC_000003.10:g.10166867A>G	NCBI36
NG_008212.3:g.13549A>G , LRG_322:g.13549A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*537A>G	ENSP00000512434.1:n.*537A>G
ENST00000696143.1:c.996A>G	ENSP00000512435.1:n.996A>G
ENST00000696153.1:c.*218A>G	ENSP00000512444.1:n.*218A>G
ENST00000256474.3:c.*218A>G MANE Select	ENSP00000256474.3:n.*218A>G
ENST00000256474.2:c.*218A>G	ENSP00000256474.2:n.*218A>G
ENST00000345392.2:c.*218A>G	ENSP00000344757.2:n.*218A>G
NM_000551.3:c.*218A>G , LRG_322t1:c.*218A>G	NP_000542.1:n.*218A>G
NM_198156.2:c.*218A>G	NP_937799.1:n.*218A>G
NM_001354723.1:c.*414A>G	NP_001341652.1:n.*414A>G
NM_000551.4:c.*218A>G MANE Select	NP_000542.1:n.*218A>G
NM_001354723.2:c.*414A>G	NP_001341652.1:n.*414A>G
NM_198156.3:c.*218A>G	NP_937799.1:n.*218A>G