Canonical Allele Identifier: CA1044999804

Gene: VHL

Linked Data

• dbSNP Id: rs1696383901
• gnomAD v3: 3-10150504-A-G
• gnomAD v4: 3-10150504-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150504A>G , CM000665.2:g.10150504A>G	GRCh38
NC_000003.11:g.10192188A>G , CM000665.1:g.10192188A>G	GRCh37
NC_000003.10:g.10167188A>G	NCBI36
NG_008212.3:g.13870A>G , LRG_322:g.13870A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*858A>G	ENSP00000512434.1:n.*858A>G
ENST00000696143.1:c.1317A>G	ENSP00000512435.1:n.1317A>G
ENST00000696153.1:c.*539A>G	ENSP00000512444.1:n.*539A>G
ENST00000256474.3:c.*539A>G MANE Select	ENSP00000256474.3:n.*539A>G
ENST00000256474.2:c.*539A>G	ENSP00000256474.2:n.*539A>G
ENST00000345392.2:c.*539A>G	ENSP00000344757.2:n.*539A>G
NM_000551.3:c.*539A>G , LRG_322t1:c.*539A>G	NP_000542.1:n.*539A>G
NM_198156.2:c.*539A>G	NP_937799.1:n.*539A>G
NM_001354723.1:c.*735A>G	NP_001341652.1:n.*735A>G
NM_000551.4:c.*539A>G MANE Select	NP_000542.1:n.*539A>G
NM_001354723.2:c.*735A>G	NP_001341652.1:n.*735A>G
NM_198156.3:c.*539A>G	NP_937799.1:n.*539A>G