Canonical Allele Identifier: CA2664400144

Gene: VHL

Linked Data

• gnomAD v4: 3-10150138-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150138T>G , CM000665.2:g.10150138T>G	GRCh38
NC_000003.11:g.10191822T>G , CM000665.1:g.10191822T>G	GRCh37
NC_000003.10:g.10166822T>G	NCBI36
NG_008212.3:g.13504T>G , LRG_322:g.13504T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*492T>G	ENSP00000512434.1:n.*492T>G
ENST00000696143.1:c.951T>G	ENSP00000512435.1:n.951T>G
ENST00000696153.1:c.*173T>G	ENSP00000512444.1:n.*173T>G
ENST00000256474.3:c.*173T>G MANE Select	ENSP00000256474.3:n.*173T>G
ENST00000256474.2:c.*173T>G	ENSP00000256474.2:n.*173T>G
ENST00000345392.2:c.*173T>G	ENSP00000344757.2:n.*173T>G
ENST00000477538.1:n.951T>G
NM_000551.3:c.*173T>G , LRG_322t1:c.*173T>G	NP_000542.1:n.*173T>G
NM_198156.2:c.*173T>G	NP_937799.1:n.*173T>G
NM_001354723.1:c.*369T>G	NP_001341652.1:n.*369T>G
NM_000551.4:c.*173T>G MANE Select	NP_000542.1:n.*173T>G
NM_001354723.2:c.*369T>G	NP_001341652.1:n.*369T>G
NM_198156.3:c.*173T>G	NP_937799.1:n.*173T>G