Canonical Allele Identifier: CA351756248

Gene: VHL

Linked Data

• ClinVar Variation Id: 625261
• ClinVar RCV Id: RCV000767289 ; RCV003279047
• dbSNP Id: rs5030822
• COSMIC: COSM18010
• MyVariant Identifiers: chr3:g.10191540T>G (hg19) ; chr3:g.10149856T>G (hg38)
• CIViC: CA351756248

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149856T>G , CM000665.2:g.10149856T>G	GRCh38
NC_000003.11:g.10191540T>G , CM000665.1:g.10191540T>G	GRCh37
NC_000003.10:g.10166540T>G	NCBI36
NG_008212.3:g.13222T>G , LRG_322:g.13222T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*210T>G	ENSP00000512434.1:n.*210T>G
ENST00000696143.1:c.669T>G	ENSP00000512435.1:n.669T>G
ENST00000696153.1:c.644T>G	ENSP00000512444.1:p.Leu215Arg
ENST00000256474.3:c.533T>G MANE Select	ENSP00000256474.3:p.Leu178Arg
ENST00000256474.2:c.533T>G	ENSP00000256474.2:p.Leu178Arg
ENST00000345392.2:c.410T>G	ENSP00000344757.2:p.Leu137Arg
ENST00000477538.1:n.669T>G
NM_000551.3:c.533T>G , LRG_322t1:c.533T>G	NP_000542.1:p.Leu178Arg
NM_198156.2:c.410T>G	NP_937799.1:p.Leu137Arg
NM_001354723.1:c.*87T>G	NP_001341652.1:n.*87T>G
NM_000551.4:c.533T>G MANE Select	NP_000542.1:p.Leu178Arg
NM_001354723.2:c.*87T>G	NP_001341652.1:n.*87T>G
NM_198156.3:c.410T>G	NP_937799.1:p.Leu137Arg