Canonical Allele Identifier: CA351756132

Gene: VHL

Linked Data

• dbSNP Id: rs1553620318
• MyVariant Identifiers: chr3:g.10191494C>G (hg19) ; chr3:g.10149810C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149810C>G , CM000665.2:g.10149810C>G	GRCh38
NC_000003.11:g.10191494C>G , CM000665.1:g.10191494C>G	GRCh37
NC_000003.10:g.10166494C>G	NCBI36
NG_008212.3:g.13176C>G , LRG_322:g.13176C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*164C>G	ENSP00000512434.1:n.*164C>G
ENST00000696143.1:c.623C>G	ENSP00000512435.1:n.623C>G
ENST00000696153.1:c.598C>G	ENSP00000512444.1:p.Leu200Val
ENST00000256474.3:c.487C>G MANE Select	ENSP00000256474.3:p.Leu163Val
ENST00000256474.2:c.487C>G	ENSP00000256474.2:p.Leu163Val
ENST00000345392.2:c.364C>G	ENSP00000344757.2:p.Leu122Val
ENST00000477538.1:n.623C>G
NM_000551.3:c.487C>G , LRG_322t1:c.487C>G	NP_000542.1:p.Leu163Val
NM_198156.2:c.364C>G	NP_937799.1:p.Leu122Val
NM_001354723.1:c.*41C>G	NP_001341652.1:n.*41C>G
NM_000551.4:c.487C>G MANE Select	NP_000542.1:p.Leu163Val
NM_001354723.2:c.*41C>G	NP_001341652.1:n.*41C>G
NM_198156.3:c.364C>G	NP_937799.1:p.Leu122Val