Canonical Allele Identifier: CA351754030
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs119103278
COSMIC: COSM3364922
MyVariant Identifiers: chr3:g.10188262A>T (hg19) chr3:g.10146578A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146578A>T , CM000665.2:g.10146578A>T GRCh38
NC_000003.11:g.10188262A>T , CM000665.1:g.10188262A>T GRCh37
NC_000003.10:g.10163262A>T NCBI36
NG_008212.3:g.9944A>T , LRG_322:g.9944A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*82A>T ENSP00000512434.1:n.*82A>T
ENST00000696143.1:c.600-3209A>T ENSP00000512435.1:n.600-3209A>T
ENST00000696153.1:c.405A>T ENSP00000512444.1:p.Leu135Phe
ENST00000256474.3:c.405A>T MANE Select ENSP00000256474.3:p.Leu135Phe
ENST00000256474.2:c.405A>T ENSP00000256474.2:p.Leu135Phe
ENST00000345392.2:c.341-3209A>T ENSP00000344757.2:n.341-3209A>T
ENST00000477538.1:n.541A>T
NM_000551.3:c.405A>T , LRG_322t1:c.405A>T NP_000542.1:p.Leu135Phe
NM_198156.2:c.341-3209A>T NP_937799.1:n.341-3209A>T
XM_011534078.1:c.*82A>T XP_011532380.1:n.*82A>T
NM_001354723.1:c.*18-3209A>T NP_001341652.1:n.*18-3209A>T
NM_000551.4:c.405A>T MANE Select NP_000542.1:p.Leu135Phe
NM_001354723.2:c.*18-3209A>T NP_001341652.1:n.*18-3209A>T
NM_198156.3:c.341-3209A>T NP_937799.1:n.341-3209A>T
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