Canonical Allele Identifier: CA041139

Gene: VHL

Linked Data

• ClinVar Variation Id: 1244574
• ClinVar RCV Id: RCV001648782 ; RCV002268546
• dbSNP Id: rs34661876
• ExAC: 3:10188363 A / G
• gnomAD v2: 3-10188363-A-G
• gnomAD v3: 3-10146679-A-G
• gnomAD v4: 3-10146679-A-G
• MyVariant Identifiers: chr3:g.10188363A>G (hg19) ; chr3:g.10146679A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146679A>G , CM000665.2:g.10146679A>G	GRCh38
NC_000003.11:g.10188363A>G , CM000665.1:g.10188363A>G	GRCh37
NC_000003.10:g.10163363A>G	NCBI36
NG_008212.3:g.10045A>G , LRG_322:g.10045A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*140+43A>G	ENSP00000512434.1:n.*140+43A>G
ENST00000696143.1:c.600-3108A>G	ENSP00000512435.1:n.600-3108A>G
ENST00000696153.1:c.463+43A>G	ENSP00000512444.1:n.463+43A>G
ENST00000256474.3:c.463+43A>G MANE Select	ENSP00000256474.3:n.463+43A>G
ENST00000256474.2:c.463+43A>G	ENSP00000256474.2:n.463+43A>G
ENST00000345392.2:c.341-3108A>G	ENSP00000344757.2:n.341-3108A>G
ENST00000477538.1:n.599+43A>G
NM_000551.3:c.463+43A>G , LRG_322t1:c.463+43A>G	NP_000542.1:n.463+43A>G
NM_198156.2:c.341-3108A>G	NP_937799.1:n.341-3108A>G
NM_001354723.1:c.*18-3108A>G	NP_001341652.1:n.*18-3108A>G
NM_000551.4:c.463+43A>G MANE Select	NP_000542.1:n.463+43A>G
NM_001354723.2:c.*18-3108A>G	NP_001341652.1:n.*18-3108A>G
NM_198156.3:c.341-3108A>G	NP_937799.1:n.341-3108A>G