Canonical Allele Identifier: CA351756654

Gene: VHL

Linked Data

• ClinVar Variation Id: 566958
• ClinVar RCV Id: RCV000686910 ; RCV002352119 ; RCV003459667 ; RCV004004254
• dbSNP Id: rs199926195
• gnomAD v4: 3-10149936-C-G
• MyVariant Identifiers: chr3:g.10191620C>G (hg19) ; chr3:g.10149936C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149936C>G , CM000665.2:g.10149936C>G	GRCh38
NC_000003.11:g.10191620C>G , CM000665.1:g.10191620C>G	GRCh37
NC_000003.10:g.10166620C>G	NCBI36
NG_008212.3:g.13302C>G , LRG_322:g.13302C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*290C>G	ENSP00000512434.1:n.*290C>G
ENST00000696143.1:c.749C>G	ENSP00000512435.1:n.749C>G
ENST00000696153.1:c.724C>G	ENSP00000512444.1:p.Arg242Gly
ENST00000256474.3:c.613C>G MANE Select	ENSP00000256474.3:p.Arg205Gly
ENST00000256474.2:c.613C>G	ENSP00000256474.2:p.Arg205Gly
ENST00000345392.2:c.490C>G	ENSP00000344757.2:p.Arg164Gly
ENST00000477538.1:n.749C>G
NM_000551.3:c.613C>G , LRG_322t1:c.613C>G	NP_000542.1:p.Arg205Gly
NM_198156.2:c.490C>G	NP_937799.1:p.Arg164Gly
NM_001354723.1:c.*167C>G	NP_001341652.1:n.*167C>G
NM_000551.4:c.613C>G MANE Select	NP_000542.1:p.Arg205Gly
NM_001354723.2:c.*167C>G	NP_001341652.1:n.*167C>G
NM_198156.3:c.490C>G	NP_937799.1:p.Arg164Gly