Canonical Allele Identifier: CA351756496

Gene: VHL

Linked Data

• ClinVar Variation Id: 1750054
• ClinVar RCV Id: RCV002353321 ; RCV003103239
• COSMIC: COSM18375
• MyVariant Identifiers: chr3:g.10191591A>G (hg19) ; chr3:g.10149907A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149907A>G , CM000665.2:g.10149907A>G	GRCh38
NC_000003.11:g.10191591A>G , CM000665.1:g.10191591A>G	GRCh37
NC_000003.10:g.10166591A>G	NCBI36
NG_008212.3:g.13273A>G , LRG_322:g.13273A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*261A>G	ENSP00000512434.1:n.*261A>G
ENST00000696143.1:c.720A>G	ENSP00000512435.1:n.720A>G
ENST00000696153.1:c.695A>G	ENSP00000512444.1:p.Gln232Arg
ENST00000256474.3:c.584A>G MANE Select	ENSP00000256474.3:p.Gln195Arg
ENST00000256474.2:c.584A>G	ENSP00000256474.2:p.Gln195Arg
ENST00000345392.2:c.461A>G	ENSP00000344757.2:p.Gln154Arg
ENST00000477538.1:n.720A>G
NM_000551.3:c.584A>G , LRG_322t1:c.584A>G	NP_000542.1:p.Gln195Arg
NM_198156.2:c.461A>G	NP_937799.1:p.Gln154Arg
NM_001354723.1:c.*138A>G	NP_001341652.1:n.*138A>G
NM_000551.4:c.584A>G MANE Select	NP_000542.1:p.Gln195Arg
NM_001354723.2:c.*138A>G	NP_001341652.1:n.*138A>G
NM_198156.3:c.461A>G	NP_937799.1:p.Gln154Arg