Canonical Allele Identifier: CA70048367

Gene: VHL

Linked Data

• dbSNP Id: rs373513077
• gnomAD v3: 3-10145480-C-G
• gnomAD v4: 3-10145480-C-G
• MyVariant Identifiers: chr3:g.10187164C>G (hg19) ; chr3:g.10145480C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10145480C>G , CM000665.2:g.10145480C>G	GRCh38
NC_000003.11:g.10187164C>G , CM000665.1:g.10187164C>G	GRCh37
NC_000003.10:g.10162164C>G	NCBI36
NG_008212.3:g.8846C>G , LRG_322:g.8846C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*18-1034C>G	ENSP00000512434.1:n.*18-1034C>G
ENST00000696143.1:c.599+2459C>G	ENSP00000512435.1:n.599+2459C>G
ENST00000696153.1:c.341-1034C>G	ENSP00000512444.1:n.341-1034C>G
ENST00000256474.3:c.341-1034C>G MANE Select	ENSP00000256474.3:n.341-1034C>G
ENST00000256474.2:c.341-1034C>G	ENSP00000256474.2:n.341-1034C>G
ENST00000345392.2:c.340+3293C>G	ENSP00000344757.2:n.340+3293C>G
ENST00000477538.1:n.477-1034C>G
NM_000551.3:c.341-1034C>G , LRG_322t1:c.341-1034C>G	NP_000542.1:n.341-1034C>G
NM_198156.2:c.340+3293C>G	NP_937799.1:n.340+3293C>G
XM_011534078.1:c.*18-1034C>G	XP_011532380.1:n.*18-1034C>G
NM_001354723.1:c.*17+2459C>G	NP_001341652.1:n.*17+2459C>G
NM_000551.4:c.341-1034C>G MANE Select	NP_000542.1:n.341-1034C>G
NM_001354723.2:c.*17+2459C>G	NP_001341652.1:n.*17+2459C>G
NM_198156.3:c.340+3293C>G	NP_937799.1:n.340+3293C>G