Canonical Allele Identifier: CA16602183
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM30227
MyVariant Identifiers: chr3:g.10183867C>A (hg19) chr3:g.10142183C>A (hg38)
CIViC: CA16602183
PCER: P-CER:CA16602183/193300
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142183C>A , CM000665.2:g.10142183C>A GRCh38
NC_000003.11:g.10183867C>A , CM000665.1:g.10183867C>A GRCh37
NC_000003.10:g.10158867C>A NCBI36
NG_008212.3:g.5549C>A , LRG_322:g.5549C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.336C>A ENSP00000512434.1:p.Tyr112Ter
ENST00000696143.1:c.336C>A ENSP00000512435.1:p.Tyr112Ter
ENST00000696153.1:c.336C>A ENSP00000512444.1:p.Tyr112Ter
ENST00000256474.3:c.336C>A MANE Select ENSP00000256474.3:p.Tyr112Ter
ENST00000256474.2:c.336C>A ENSP00000256474.2:p.Tyr112Ter
ENST00000345392.2:c.336C>A ENSP00000344757.2:p.Tyr112Ter
NM_000551.3:c.336C>A , LRG_322t1:c.336C>A NP_000542.1:p.Tyr112Ter
NM_198156.2:c.336C>A NP_937799.1:p.Tyr112Ter
XM_011534078.1:c.336C>A XP_011532380.1:p.Tyr112Ter
NM_001354723.1:c.336C>A NP_001341652.1:p.Tyr112Ter
NM_000551.4:c.336C>A MANE Select NP_000542.1:p.Tyr112Ter
NM_001354723.2:c.336C>A NP_001341652.1:p.Tyr112Ter
NM_198156.3:c.336C>A NP_937799.1:p.Tyr112Ter
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