Canonical Allele Identifier: CA351756286

Gene: VHL

Linked Data

• ClinVar Variation Id: 1368387
• ClinVar RCV Id: RCV001867477 ; RCV004009228 ; RCV004040440
• dbSNP Id: rs374927292
• gnomAD v4: 3-10149863-C-G
• MyVariant Identifiers: chr3:g.10191547C>G (hg19) ; chr3:g.10149863C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149863C>G , CM000665.2:g.10149863C>G	GRCh38
NC_000003.11:g.10191547C>G , CM000665.1:g.10191547C>G	GRCh37
NC_000003.10:g.10166547C>G	NCBI36
NG_008212.3:g.13229C>G , LRG_322:g.13229C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*217C>G	ENSP00000512434.1:n.*217C>G
ENST00000696143.1:c.676C>G	ENSP00000512435.1:n.676C>G
ENST00000696153.1:c.651C>G	ENSP00000512444.1:p.Ile217Met
ENST00000256474.3:c.540C>G MANE Select	ENSP00000256474.3:p.Ile180Met
ENST00000256474.2:c.540C>G	ENSP00000256474.2:p.Ile180Met
ENST00000345392.2:c.417C>G	ENSP00000344757.2:p.Ile139Met
ENST00000477538.1:n.676C>G
NM_000551.3:c.540C>G , LRG_322t1:c.540C>G	NP_000542.1:p.Ile180Met
NM_198156.2:c.417C>G	NP_937799.1:p.Ile139Met
NM_001354723.1:c.*94C>G	NP_001341652.1:n.*94C>G
NM_000551.4:c.540C>G MANE Select	NP_000542.1:p.Ile180Met
NM_001354723.2:c.*94C>G	NP_001341652.1:n.*94C>G
NM_198156.3:c.417C>G	NP_937799.1:p.Ile139Met