Canonical Allele Identifier: CA70049117

Gene: VHL

Linked Data

• dbSNP Id: rs566297318
• gnomAD v2: 3-10187922-A-G
• gnomAD v3: 3-10146238-A-G
• gnomAD v4: 3-10146238-A-G
• MyVariant Identifiers: chr3:g.10187922A>G (hg19) ; chr3:g.10146238A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146238A>G , CM000665.2:g.10146238A>G	GRCh38
NC_000003.11:g.10187922A>G , CM000665.1:g.10187922A>G	GRCh37
NC_000003.10:g.10162922A>G	NCBI36
NG_008212.3:g.9604A>G , LRG_322:g.9604A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*18-276A>G	ENSP00000512434.1:n.*18-276A>G
ENST00000696143.1:c.599+3217A>G	ENSP00000512435.1:n.599+3217A>G
ENST00000696153.1:c.341-276A>G	ENSP00000512444.1:n.341-276A>G
ENST00000256474.3:c.341-276A>G MANE Select	ENSP00000256474.3:n.341-276A>G
ENST00000256474.2:c.341-276A>G	ENSP00000256474.2:n.341-276A>G
ENST00000345392.2:c.341-3549A>G	ENSP00000344757.2:n.341-3549A>G
ENST00000477538.1:n.477-276A>G
NM_000551.3:c.341-276A>G , LRG_322t1:c.341-276A>G	NP_000542.1:n.341-276A>G
NM_198156.2:c.341-3549A>G	NP_937799.1:n.341-3549A>G
XM_011534078.1:c.*18-276A>G	XP_011532380.1:n.*18-276A>G
NM_001354723.1:c.*17+3217A>G	NP_001341652.1:n.*17+3217A>G
NM_000551.4:c.341-276A>G MANE Select	NP_000542.1:n.341-276A>G
NM_001354723.2:c.*17+3217A>G	NP_001341652.1:n.*17+3217A>G
NM_198156.3:c.341-3549A>G	NP_937799.1:n.341-3549A>G