Canonical Allele Identifier: CA020104
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 182975
ClinVar RCV Id: RCV001389259
dbSNP Id: rs5030826
gnomAD v2: 3-10183725-C-T
COSMIC: COSM14400
MyVariant Identifiers: chr3:g.10183725C>T (hg19) chr3:g.10142041C>T (hg38)
PCER: P-CER:CA020104/193300
CIViC: CA020104
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142041C>T , CM000665.2:g.10142041C>T GRCh38
NC_000003.11:g.10183725C>T , CM000665.1:g.10183725C>T GRCh37
NC_000003.10:g.10158725C>T NCBI36
NG_008212.3:g.5407C>T , LRG_322:g.5407C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.194C>T ENSP00000512434.1:p.Ser65Leu
ENST00000696143.1:c.194C>T ENSP00000512435.1:p.Ser65Leu
ENST00000696153.1:c.194C>T ENSP00000512444.1:p.Ser65Leu
ENST00000256474.3:c.194C>T MANE Select ENSP00000256474.3:p.Ser65Leu
ENST00000256474.2:c.194C>T ENSP00000256474.2:p.Ser65Leu
ENST00000345392.2:c.194C>T ENSP00000344757.2:p.Ser65Leu
NM_000551.3:c.194C>T , LRG_322t1:c.194C>T NP_000542.1:p.Ser65Leu
NM_198156.2:c.194C>T NP_937799.1:p.Ser65Leu
XM_011534078.1:c.194C>T XP_011532380.1:p.Ser65Leu
NM_001354723.1:c.194C>T NP_001341652.1:p.Ser65Leu
NM_000551.4:c.194C>T MANE Select NP_000542.1:p.Ser65Leu
NM_001354723.2:c.194C>T NP_001341652.1:p.Ser65Leu
NM_198156.3:c.194C>T NP_937799.1:p.Ser65Leu
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