Canonical Allele Identifier: CA1044999711

Gene: VHL

Linked Data

• dbSNP Id: rs1696372729
• gnomAD v3: 3-10150104-G-A
• gnomAD v4: 3-10150104-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150104G>A , CM000665.2:g.10150104G>A	GRCh38
NC_000003.11:g.10191788G>A , CM000665.1:g.10191788G>A	GRCh37
NC_000003.10:g.10166788G>A	NCBI36
NG_008212.3:g.13470G>A , LRG_322:g.13470G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*458G>A	ENSP00000512434.1:n.*458G>A
ENST00000696143.1:c.917G>A	ENSP00000512435.1:n.917G>A
ENST00000696153.1:c.*139G>A	ENSP00000512444.1:n.*139G>A
ENST00000256474.3:c.*139G>A MANE Select	ENSP00000256474.3:n.*139G>A
ENST00000256474.2:c.*139G>A	ENSP00000256474.2:n.*139G>A
ENST00000345392.2:c.*139G>A	ENSP00000344757.2:n.*139G>A
ENST00000477538.1:n.917G>A
NM_000551.3:c.*139G>A , LRG_322t1:c.*139G>A	NP_000542.1:n.*139G>A
NM_198156.2:c.*139G>A	NP_937799.1:n.*139G>A
NM_001354723.1:c.*335G>A	NP_001341652.1:n.*335G>A
NM_000551.4:c.*139G>A MANE Select	NP_000542.1:n.*139G>A
NM_001354723.2:c.*335G>A	NP_001341652.1:n.*335G>A
NM_198156.3:c.*139G>A	NP_937799.1:n.*139G>A