Canonical Allele Identifier: CA277912
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 219158
dbSNP Id: rs5030823
CIViC: CA277912

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149871C>G , CM000665.2:g.10149871C>G GRCh38
NC_000003.11:g.10191555C>G , CM000665.1:g.10191555C>G GRCh37
NC_000003.10:g.10166555C>G NCBI36
NG_008212.3:g.13237C>G , LRG_322:g.13237C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*225C>G ENSP00000512434.1:n.*225C>G
ENST00000696143.1:c.684C>G ENSP00000512435.1:n.684C>G
ENST00000696153.1:c.659C>G ENSP00000512444.1:p.Ser220Trp
ENST00000256474.3:c.548C>G MANE Select ENSP00000256474.3:p.Ser183Trp
ENST00000256474.2:c.548C>G ENSP00000256474.2:p.Ser183Trp
ENST00000345392.2:c.425C>G ENSP00000344757.2:p.Ser142Trp
ENST00000477538.1:n.684C>G
NM_000551.3:c.548C>G , LRG_322t1:c.548C>G NP_000542.1:p.Ser183Trp
NM_198156.2:c.425C>G NP_937799.1:p.Ser142Trp
NM_001354723.1:c.*102C>G NP_001341652.1:n.*102C>G
NM_000551.4:c.548C>G MANE Select NP_000542.1:p.Ser183Trp
NM_001354723.2:c.*102C>G NP_001341652.1:n.*102C>G
NM_198156.3:c.425C>G NP_937799.1:p.Ser142Trp