Canonical Allele Identifier: CA351756196
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs864321642

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149832T>G , CM000665.2:g.10149832T>G GRCh38
NC_000003.11:g.10191516T>G , CM000665.1:g.10191516T>G GRCh37
NC_000003.10:g.10166516T>G NCBI36
NG_008212.3:g.13198T>G , LRG_322:g.13198T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*186T>G ENSP00000512434.1:n.*186T>G
ENST00000696143.1:c.645T>G ENSP00000512435.1:n.645T>G
ENST00000696153.1:c.620T>G ENSP00000512444.1:p.Val207Gly
ENST00000256474.3:c.509T>G MANE Select ENSP00000256474.3:p.Val170Gly
ENST00000256474.2:c.509T>G ENSP00000256474.2:p.Val170Gly
ENST00000345392.2:c.386T>G ENSP00000344757.2:p.Val129Gly
ENST00000477538.1:n.645T>G
NM_000551.3:c.509T>G , LRG_322t1:c.509T>G NP_000542.1:p.Val170Gly
NM_198156.2:c.386T>G NP_937799.1:p.Val129Gly
NM_001354723.1:c.*63T>G NP_001341652.1:n.*63T>G
NM_000551.4:c.509T>G MANE Select NP_000542.1:p.Val170Gly
NM_001354723.2:c.*63T>G NP_001341652.1:n.*63T>G
NM_198156.3:c.386T>G NP_937799.1:p.Val129Gly