Canonical Allele Identifier: CA351756612

Gene: VHL

Linked Data

• dbSNP Id: rs750711842
• MyVariant Identifiers: chr3:g.10191614C>G (hg19) ; chr3:g.10149930C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*284C>G	ENSP00000512434.1:n.*284C>G
ENST00000696143.1:c.743C>G	ENSP00000512435.1:n.743C>G
ENST00000696153.1:c.718C>G	ENSP00000512444.1:p.Gln240Glu
ENST00000256474.3:c.607C>G MANE Select	ENSP00000256474.3:p.Gln203Glu
ENST00000256474.2:c.607C>G	ENSP00000256474.2:p.Gln203Glu
ENST00000345392.2:c.484C>G	ENSP00000344757.2:p.Gln162Glu
ENST00000477538.1:n.743C>G
NM_000551.3:c.607C>G , LRG_322t1:c.607C>G	NP_000542.1:p.Gln203Glu
NM_198156.2:c.484C>G	NP_937799.1:p.Gln162Glu
NM_001354723.1:c.*161C>G	NP_001341652.1:n.*161C>G
NM_000551.4:c.607C>G MANE Select	NP_000542.1:p.Gln203Glu
NM_001354723.2:c.*161C>G	NP_001341652.1:n.*161C>G
NM_198156.3:c.484C>G	NP_937799.1:p.Gln162Glu