Canonical Allele Identifier: CA357066

Gene: VHL

Linked Data

• ClinVar Variation Id: 223213
• ClinVar RCV Id: RCV000208822 ; RCV002327073
• dbSNP Id: rs587780077
• COSMIC: COSM1417319
• MyVariant Identifiers: chr3:g.10188302G>A (hg19) ; chr3:g.10146618G>A (hg38)
• CIViC: CA357066

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146618G>A , CM000665.2:g.10146618G>A	GRCh38
NC_000003.11:g.10188302G>A , CM000665.1:g.10188302G>A	GRCh37
NC_000003.10:g.10163302G>A	NCBI36
NG_008212.3:g.9984G>A , LRG_322:g.9984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*122G>A	ENSP00000512434.1:n.*122G>A
ENST00000696143.1:c.600-3169G>A	ENSP00000512435.1:n.600-3169G>A
ENST00000696153.1:c.445G>A	ENSP00000512444.1:p.Ala149Thr
ENST00000256474.3:c.445G>A MANE Select	ENSP00000256474.3:p.Ala149Thr
ENST00000256474.2:c.445G>A	ENSP00000256474.2:p.Ala149Thr
ENST00000345392.2:c.341-3169G>A	ENSP00000344757.2:n.341-3169G>A
ENST00000477538.1:n.581G>A
NM_000551.3:c.445G>A , LRG_322t1:c.445G>A	NP_000542.1:p.Ala149Thr
NM_198156.2:c.341-3169G>A	NP_937799.1:n.341-3169G>A
NM_001354723.1:c.*18-3169G>A	NP_001341652.1:n.*18-3169G>A
NM_000551.4:c.445G>A MANE Select	NP_000542.1:p.Ala149Thr
NM_001354723.2:c.*18-3169G>A	NP_001341652.1:n.*18-3169G>A
NM_198156.3:c.341-3169G>A	NP_937799.1:n.341-3169G>A