Canonical Allele Identifier: CA040192

Gene: VHL

Linked Data

• ClinVar Variation Id: 526674
• ClinVar RCV Id: RCV000631270 ; RCV000997987 ; RCV002477380 ; RCV002255483
• dbSNP Id: rs745901803
• ExAC: 3:10183829 A / G
• gnomAD v2: 3-10183829-A-G
• gnomAD v3: 3-10142145-A-G
• gnomAD v4: 3-10142145-A-G
• COSMIC: COSM17856
• MyVariant Identifiers: chr3:g.10183829A>G (hg19) ; chr3:g.10142145A>G (hg38)
• CIViC: CA040192

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142145A>G , CM000665.2:g.10142145A>G	GRCh38
NC_000003.11:g.10183829A>G , CM000665.1:g.10183829A>G	GRCh37
NC_000003.10:g.10158829A>G	NCBI36
NG_008212.3:g.5511A>G , LRG_322:g.5511A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.298A>G	ENSP00000512434.1:p.Thr100Ala
ENST00000696143.1:c.298A>G	ENSP00000512435.1:p.Thr100Ala
ENST00000696153.1:c.298A>G	ENSP00000512444.1:p.Thr100Ala
ENST00000256474.3:c.298A>G MANE Select	ENSP00000256474.3:p.Thr100Ala
ENST00000256474.2:c.298A>G	ENSP00000256474.2:p.Thr100Ala
ENST00000345392.2:c.298A>G	ENSP00000344757.2:p.Thr100Ala
NM_000551.3:c.298A>G , LRG_322t1:c.298A>G	NP_000542.1:p.Thr100Ala
NM_198156.2:c.298A>G	NP_937799.1:p.Thr100Ala
XM_011534078.1:c.298A>G	XP_011532380.1:p.Thr100Ala
NM_001354723.1:c.298A>G	NP_001341652.1:p.Thr100Ala
NM_000551.4:c.298A>G MANE Select	NP_000542.1:p.Thr100Ala
NM_001354723.2:c.298A>G	NP_001341652.1:p.Thr100Ala
NM_198156.3:c.298A>G	NP_937799.1:p.Thr100Ala