Canonical Allele Identifier: CA351750747
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1060503563
MyVariant Identifiers: chr3:g.10183804C>G (hg19) chr3:g.10142120C>G (hg38)
CIViC: CA351750747
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142120C>G , CM000665.2:g.10142120C>G GRCh38
NC_000003.11:g.10183804C>G , CM000665.1:g.10183804C>G GRCh37
NC_000003.10:g.10158804C>G NCBI36
NG_008212.3:g.5486C>G , LRG_322:g.5486C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.273C>G ENSP00000512434.1:p.Phe91Leu
ENST00000696143.1:c.273C>G ENSP00000512435.1:p.Phe91Leu
ENST00000696153.1:c.273C>G ENSP00000512444.1:p.Phe91Leu
ENST00000256474.3:c.273C>G MANE Select ENSP00000256474.3:p.Phe91Leu
ENST00000256474.2:c.273C>G ENSP00000256474.2:p.Phe91Leu
ENST00000345392.2:c.273C>G ENSP00000344757.2:p.Phe91Leu
NM_000551.3:c.273C>G , LRG_322t1:c.273C>G NP_000542.1:p.Phe91Leu
NM_198156.2:c.273C>G NP_937799.1:p.Phe91Leu
XM_011534078.1:c.273C>G XP_011532380.1:p.Phe91Leu
NM_001354723.1:c.273C>G NP_001341652.1:p.Phe91Leu
NM_000551.4:c.273C>G MANE Select NP_000542.1:p.Phe91Leu
NM_001354723.2:c.273C>G NP_001341652.1:p.Phe91Leu
NM_198156.3:c.273C>G NP_937799.1:p.Phe91Leu
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