Canonical Allele Identifier: CA041909
Community Standard Title: NM_000551.4(VHL):c.610G>T (p.Glu204Ter)
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149933G>T , CM000665.2:g.10149933G>T GRCh38
NC_000003.11:g.10191617G>T , CM000665.1:g.10191617G>T GRCh37
NC_000003.10:g.10166617G>T NCBI36
NG_008212.3:g.13299G>T , LRG_322:g.13299G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000551.4:c.610G>T MANE Select NP_000542.1:p.Glu204Ter
ENST00000256474.3:c.610G>T MANE Select ENSP00000256474.3:p.Glu204Ter
NM_000551.3:c.610G>T , LRG_322t1:c.610G>T NP_000542.1:p.Glu204Ter
NM_001354723.1:c.*164G>T NP_001341652.1:n.*164G>T
NM_001354723.2:c.*164G>T NP_001341652.1:n.*164G>T
NM_198156.2:c.487G>T NP_937799.1:p.Glu163Ter
NM_198156.3:c.487G>T NP_937799.1:p.Glu163Ter
ENST00000256474.2:c.610G>T ENSP00000256474.2:p.Glu204Ter
ENST00000345392.2:c.487G>T ENSP00000344757.2:p.Glu163Ter
ENST00000477538.1:n.746G>T
ENST00000696142.1:c.*287G>T ENSP00000512434.1:n.*287G>T
ENST00000696143.1:c.746G>T ENSP00000512435.1:n.746G>T
ENST00000696153.1:c.721G>T ENSP00000512444.1:p.Glu241Ter
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