Canonical Allele Identifier: CA2664400280

Gene: VHL

Linked Data

• gnomAD v4: 3-10150300-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150300T>G , CM000665.2:g.10150300T>G	GRCh38
NC_000003.11:g.10191984T>G , CM000665.1:g.10191984T>G	GRCh37
NC_000003.10:g.10166984T>G	NCBI36
NG_008212.3:g.13666T>G , LRG_322:g.13666T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*654T>G	ENSP00000512434.1:n.*654T>G
ENST00000696143.1:c.1113T>G	ENSP00000512435.1:n.1113T>G
ENST00000696153.1:c.*335T>G	ENSP00000512444.1:n.*335T>G
ENST00000256474.3:c.*335T>G MANE Select	ENSP00000256474.3:n.*335T>G
ENST00000256474.2:c.*335T>G	ENSP00000256474.2:n.*335T>G
ENST00000345392.2:c.*335T>G	ENSP00000344757.2:n.*335T>G
NM_000551.3:c.*335T>G , LRG_322t1:c.*335T>G	NP_000542.1:n.*335T>G
NM_198156.2:c.*335T>G	NP_937799.1:n.*335T>G
NM_001354723.1:c.*531T>G	NP_001341652.1:n.*531T>G
NM_000551.4:c.*335T>G MANE Select	NP_000542.1:n.*335T>G
NM_001354723.2:c.*531T>G	NP_001341652.1:n.*531T>G
NM_198156.3:c.*335T>G	NP_937799.1:n.*335T>G