Canonical Allele Identifier: CA351756610

Gene: VHL

Linked Data

• ClinVar Variation Id: 1472969
• ClinVar RCV Id: RCV001977317 ; RCV003320863 ; RCV003170281
• dbSNP Id: rs750711842
• gnomAD v4: 3-10149930-C-A
• MyVariant Identifiers: chr3:g.10191614C>A (hg19) ; chr3:g.10149930C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149930C>A , CM000665.2:g.10149930C>A	GRCh38
NC_000003.11:g.10191614C>A , CM000665.1:g.10191614C>A	GRCh37
NC_000003.10:g.10166614C>A	NCBI36
NG_008212.3:g.13296C>A , LRG_322:g.13296C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*284C>A	ENSP00000512434.1:n.*284C>A
ENST00000696143.1:c.743C>A	ENSP00000512435.1:n.743C>A
ENST00000696153.1:c.718C>A	ENSP00000512444.1:p.Gln240Lys
ENST00000256474.3:c.607C>A MANE Select	ENSP00000256474.3:p.Gln203Lys
ENST00000256474.2:c.607C>A	ENSP00000256474.2:p.Gln203Lys
ENST00000345392.2:c.484C>A	ENSP00000344757.2:p.Gln162Lys
ENST00000477538.1:n.743C>A
NM_000551.3:c.607C>A , LRG_322t1:c.607C>A	NP_000542.1:p.Gln203Lys
NM_198156.2:c.484C>A	NP_937799.1:p.Gln162Lys
NM_001354723.1:c.*161C>A	NP_001341652.1:n.*161C>A
NM_000551.4:c.607C>A MANE Select	NP_000542.1:p.Gln203Lys
NM_001354723.2:c.*161C>A	NP_001341652.1:n.*161C>A
NM_198156.3:c.484C>A	NP_937799.1:p.Gln162Lys