Canonical Allele Identifier: CA351750654
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs2125125170
COSMIC: COSM6444479
MyVariant Identifiers: chr3:g.10183791T>C (hg19) chr3:g.10142107T>C (hg38)
CIViC: CA351750654
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142107T>C , CM000665.2:g.10142107T>C GRCh38
NC_000003.11:g.10183791T>C , CM000665.1:g.10183791T>C GRCh37
NC_000003.10:g.10158791T>C NCBI36
NG_008212.3:g.5473T>C , LRG_322:g.5473T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.260T>C ENSP00000512434.1:p.Val87Ala
ENST00000696143.1:c.260T>C ENSP00000512435.1:p.Val87Ala
ENST00000696153.1:c.260T>C ENSP00000512444.1:p.Val87Ala
ENST00000256474.3:c.260T>C MANE Select ENSP00000256474.3:p.Val87Ala
ENST00000256474.2:c.260T>C ENSP00000256474.2:p.Val87Ala
ENST00000345392.2:c.260T>C ENSP00000344757.2:p.Val87Ala
NM_000551.3:c.260T>C , LRG_322t1:c.260T>C NP_000542.1:p.Val87Ala
NM_198156.2:c.260T>C NP_937799.1:p.Val87Ala
XM_011534078.1:c.260T>C XP_011532380.1:p.Val87Ala
NM_001354723.1:c.260T>C NP_001341652.1:p.Val87Ala
NM_000551.4:c.260T>C MANE Select NP_000542.1:p.Val87Ala
NM_001354723.2:c.260T>C NP_001341652.1:p.Val87Ala
NM_198156.3:c.260T>C NP_937799.1:p.Val87Ala
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