Canonical Allele Identifier: CA020075
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 135951
ClinVar RCV Id: RCV000123102 RCV000161102 RCV000213076 RCV000658953 RCV001082042
dbSNP Id: rs63650860
ExAC: 3:10183714 C / G
gnomAD v2: 3-10183714-C-G
gnomAD v3: 3-10142030-C-G
gnomAD v4: 3-10142030-C-G
COSMIC: COSM25363
MyVariant Identifiers: chr3:g.10183714C>G (hg19) chr3:g.10142030C>G (hg38)
CIViC: CA020075
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142030C>G , CM000665.2:g.10142030C>G GRCh38
NC_000003.11:g.10183714C>G , CM000665.1:g.10183714C>G GRCh37
NC_000003.10:g.10158714C>G NCBI36
NG_008212.3:g.5396C>G , LRG_322:g.5396C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.183C>G ENSP00000512434.1:p.Pro61=
ENST00000696143.1:c.183C>G ENSP00000512435.1:p.Pro61=
ENST00000696153.1:c.183C>G ENSP00000512444.1:p.Pro61=
ENST00000256474.3:c.183C>G MANE Select ENSP00000256474.3:p.Pro61=
ENST00000256474.2:c.183C>G ENSP00000256474.2:p.Pro61=
ENST00000345392.2:c.183C>G ENSP00000344757.2:p.Pro61=
NM_000551.3:c.183C>G , LRG_322t1:c.183C>G NP_000542.1:p.Pro61=
NM_198156.2:c.183C>G NP_937799.1:p.Pro61=
XM_011534078.1:c.183C>G XP_011532380.1:p.Pro61=
NM_001354723.1:c.183C>G NP_001341652.1:p.Pro61=
NM_000551.4:c.183C>G MANE Select NP_000542.1:p.Pro61=
NM_001354723.2:c.183C>G NP_001341652.1:p.Pro61=
NM_198156.3:c.183C>G NP_937799.1:p.Pro61=
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