Canonical Allele Identifier: CA351756053
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1696354161
COSMIC: COSM34021
MyVariant Identifiers: chr3:g.10191475T>G (hg19) chr3:g.10149791T>G (hg38)
CIViC: CA351756053
PCER: P-CER:CA351756053/193300
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149791T>G , CM000665.2:g.10149791T>G GRCh38
NC_000003.11:g.10191475T>G , CM000665.1:g.10191475T>G GRCh37
NC_000003.10:g.10166475T>G NCBI36
NG_008212.3:g.13157T>G , LRG_322:g.13157T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*145T>G ENSP00000512434.1:n.*145T>G
ENST00000696143.1:c.604T>G ENSP00000512435.1:n.604T>G
ENST00000696153.1:c.579T>G ENSP00000512444.1:p.Tyr193Ter
ENST00000256474.3:c.468T>G MANE Select ENSP00000256474.3:p.Tyr156Ter
ENST00000256474.2:c.468T>G ENSP00000256474.2:p.Tyr156Ter
ENST00000345392.2:c.345T>G ENSP00000344757.2:p.Tyr115Ter
ENST00000477538.1:n.604T>G
NM_000551.3:c.468T>G , LRG_322t1:c.468T>G NP_000542.1:p.Tyr156Ter
NM_198156.2:c.345T>G NP_937799.1:p.Tyr115Ter
NM_001354723.1:c.*22T>G NP_001341652.1:n.*22T>G
NM_000551.4:c.468T>G MANE Select NP_000542.1:p.Tyr156Ter
NM_001354723.2:c.*22T>G NP_001341652.1:n.*22T>G
NM_198156.3:c.345T>G NP_937799.1:p.Tyr115Ter
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