Canonical Allele Identifier: CA70054081

Gene: VHL

Linked Data

• dbSNP Id: rs1029743728
• gnomAD v2: 3-10193603-A-G
• gnomAD v3: 3-10151919-A-G
• gnomAD v4: 3-10151919-A-G
• MyVariant Identifiers: chr3:g.10193603A>G (hg19) ; chr3:g.10151919A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10151919A>G , CM000665.2:g.10151919A>G	GRCh38
NC_000003.11:g.10193603A>G , CM000665.1:g.10193603A>G	GRCh37
NC_000003.10:g.10168603A>G	NCBI36
NG_008212.3:g.15285A>G , LRG_322:g.15285A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696143.1:c.2732A>G	ENSP00000512435.1:n.2732A>G
ENST00000696153.1:c.*1954A>G	ENSP00000512444.1:n.*1954A>G
ENST00000256474.3:c.*1954A>G MANE Select	ENSP00000256474.3:n.*1954A>G
ENST00000256474.2:c.*1954A>G	ENSP00000256474.2:n.*1954A>G
ENST00000345392.2:c.*1954A>G	ENSP00000344757.2:n.*1954A>G
NM_000551.3:c.*1954A>G , LRG_322t1:c.*1954A>G	NP_000542.1:n.*1954A>G
NM_198156.2:c.*1954A>G	NP_937799.1:n.*1954A>G
NM_001354723.1:c.*2150A>G	NP_001341652.1:n.*2150A>G
NM_000551.4:c.*1954A>G MANE Select	NP_000542.1:n.*1954A>G
NM_001354723.2:c.*2150A>G	NP_001341652.1:n.*2150A>G
NM_198156.3:c.*1954A>G	NP_937799.1:n.*1954A>G