Canonical Allele Identifier: CA16611270
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 411978
ClinVar RCV Id: RCV000464337 RCV001016453
dbSNP Id: rs1060503563
MyVariant Identifiers: chr3:g.10183804C>A (hg19) chr3:g.10142120C>A (hg38)
ERepo: CA16611270/MONDO:0008667/078
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Genomic Alleles

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

Transcript Alleles

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