Canonical Allele Identifier: CA351756180
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs2125130548
MyVariant Identifiers: chr3:g.10191509A>G (hg19) chr3:g.10149825A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149825A>G , CM000665.2:g.10149825A>G GRCh38
NC_000003.11:g.10191509A>G , CM000665.1:g.10191509A>G GRCh37
NC_000003.10:g.10166509A>G NCBI36
NG_008212.3:g.13191A>G , LRG_322:g.13191A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*179A>G ENSP00000512434.1:n.*179A>G
ENST00000696143.1:c.638A>G ENSP00000512435.1:n.638A>G
ENST00000696153.1:c.613A>G ENSP00000512444.1:p.Ser205Gly
ENST00000256474.3:c.502A>G MANE Select ENSP00000256474.3:p.Ser168Gly
ENST00000256474.2:c.502A>G ENSP00000256474.2:p.Ser168Gly
ENST00000345392.2:c.379A>G ENSP00000344757.2:p.Ser127Gly
ENST00000477538.1:n.638A>G
NM_000551.3:c.502A>G , LRG_322t1:c.502A>G NP_000542.1:p.Ser168Gly
NM_198156.2:c.379A>G NP_937799.1:p.Ser127Gly
NM_001354723.1:c.*56A>G NP_001341652.1:n.*56A>G
NM_000551.4:c.502A>G MANE Select NP_000542.1:p.Ser168Gly
NM_001354723.2:c.*56A>G NP_001341652.1:n.*56A>G
NM_198156.3:c.379A>G NP_937799.1:p.Ser127Gly
Search 100 bp 5'
Search 100 bp 3'