Canonical Allele Identifier: CA2664400219

Gene: VHL

Linked Data

• gnomAD v4: 3-10150242-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150242T>G , CM000665.2:g.10150242T>G	GRCh38
NC_000003.11:g.10191926T>G , CM000665.1:g.10191926T>G	GRCh37
NC_000003.10:g.10166926T>G	NCBI36
NG_008212.3:g.13608T>G , LRG_322:g.13608T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*596T>G	ENSP00000512434.1:n.*596T>G
ENST00000696143.1:c.1055T>G	ENSP00000512435.1:n.1055T>G
ENST00000696153.1:c.*277T>G	ENSP00000512444.1:n.*277T>G
ENST00000256474.3:c.*277T>G MANE Select	ENSP00000256474.3:n.*277T>G
ENST00000256474.2:c.*277T>G	ENSP00000256474.2:n.*277T>G
ENST00000345392.2:c.*277T>G	ENSP00000344757.2:n.*277T>G
NM_000551.3:c.*277T>G , LRG_322t1:c.*277T>G	NP_000542.1:n.*277T>G
NM_198156.2:c.*277T>G	NP_937799.1:n.*277T>G
NM_001354723.1:c.*473T>G	NP_001341652.1:n.*473T>G
NM_000551.4:c.*277T>G MANE Select	NP_000542.1:n.*277T>G
NM_001354723.2:c.*473T>G	NP_001341652.1:n.*473T>G
NM_198156.3:c.*277T>G	NP_937799.1:n.*277T>G