Canonical Allele Identifier: CA351754250

Gene: VHL

Linked Data

• ClinVar Variation Id: 1740140
• ClinVar RCV Id: RCV002333559 ; RCV003094668
• dbSNP Id: rs1575928079
• gnomAD v4: 3-10146610-C-G
• MyVariant Identifiers: chr3:g.10188294C>G (hg19) ; chr3:g.10146610C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146610C>G , CM000665.2:g.10146610C>G	GRCh38
NC_000003.11:g.10188294C>G , CM000665.1:g.10188294C>G	GRCh37
NC_000003.10:g.10163294C>G	NCBI36
NG_008212.3:g.9976C>G , LRG_322:g.9976C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*114C>G	ENSP00000512434.1:n.*114C>G
ENST00000696143.1:c.600-3177C>G	ENSP00000512435.1:n.600-3177C>G
ENST00000696153.1:c.437C>G	ENSP00000512444.1:p.Pro146Arg
ENST00000256474.3:c.437C>G MANE Select	ENSP00000256474.3:p.Pro146Arg
ENST00000256474.2:c.437C>G	ENSP00000256474.2:p.Pro146Arg
ENST00000345392.2:c.341-3177C>G	ENSP00000344757.2:n.341-3177C>G
ENST00000477538.1:n.573C>G
NM_000551.3:c.437C>G , LRG_322t1:c.437C>G	NP_000542.1:p.Pro146Arg
NM_198156.2:c.341-3177C>G	NP_937799.1:n.341-3177C>G
NM_001354723.1:c.*18-3177C>G	NP_001341652.1:n.*18-3177C>G
NM_000551.4:c.437C>G MANE Select	NP_000542.1:p.Pro146Arg
NM_001354723.2:c.*18-3177C>G	NP_001341652.1:n.*18-3177C>G
NM_198156.3:c.341-3177C>G	NP_937799.1:n.341-3177C>G