Canonical Allele Identifier: CA351754408

Gene: VHL

Linked Data

• ClinVar Variation Id: 560745
• ClinVar RCV Id: RCV000679041 ; RCV000698100 ; RCV002334238 ; RCV003465545 ; RCV004004216
• dbSNP Id: rs1399097617
• gnomAD v2: 3-10188318-C-G
• gnomAD v4: 3-10146634-C-G
• MyVariant Identifiers: chr3:g.10188318C>G (hg19) ; chr3:g.10146634C>G (hg38)
• ERepo: CA351754408/MONDO:0008667/078

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146634C>G , CM000665.2:g.10146634C>G	GRCh38
NC_000003.11:g.10188318C>G , CM000665.1:g.10188318C>G	GRCh37
NC_000003.10:g.10163318C>G	NCBI36
NG_008212.3:g.10000C>G , LRG_322:g.10000C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*138C>G	ENSP00000512434.1:n.*138C>G
ENST00000696143.1:c.600-3153C>G	ENSP00000512435.1:n.600-3153C>G
ENST00000696153.1:c.461C>G	ENSP00000512444.1:p.Pro154Arg
ENST00000256474.3:c.461C>G MANE Select	ENSP00000256474.3:p.Pro154Arg
ENST00000256474.2:c.461C>G	ENSP00000256474.2:p.Pro154Arg
ENST00000345392.2:c.341-3153C>G	ENSP00000344757.2:n.341-3153C>G
ENST00000477538.1:n.597C>G
NM_000551.3:c.461C>G , LRG_322t1:c.461C>G	NP_000542.1:p.Pro154Arg
NM_198156.2:c.341-3153C>G	NP_937799.1:n.341-3153C>G
NM_001354723.1:c.*18-3153C>G	NP_001341652.1:n.*18-3153C>G
NM_000551.4:c.461C>G MANE Select	NP_000542.1:p.Pro154Arg
NM_001354723.2:c.*18-3153C>G	NP_001341652.1:n.*18-3153C>G
NM_198156.3:c.341-3153C>G	NP_937799.1:n.341-3153C>G