Canonical Allele Identifier: CA020148
Gene: VHL HGNC NCBI
ClinGen Evidence Repository:
Classification Benign
Condition von Hippel-Lindau disease
VCEP VHL VCEP
CIViC:
CA020148
COSMIC:
COSM17721
MyVariant.info:
GRCh38 chr3:g.10142088C>T
GRCh37 chr3:g.10183772C>T
Revel Score:
ENST00000256474 (MANE Select) 0.678
ENST00000345392 0.678
gnomAD v2:
3:10183772 C / T
gnomAD v3:
3:10142088 C / T
gnomAD v4:
chr3-10142088-C-T
Joint Max Group AF 0.00042807 (NFE)
Genomes Max Group AF 0.00053353 (NFE)
Exomes Max Group AF 0.00041346 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142088C>T , CM000665.2:g.10142088C>T GRCh38
NC_000003.11:g.10183772C>T , CM000665.1:g.10183772C>T GRCh37
NC_000003.10:g.10158772C>T NCBI36
NG_008212.3:g.5454C>T , LRG_322:g.5454C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.241C>T ENSP00000512434.1:p.Pro81Ser
ENST00000696143.1:c.241C>T ENSP00000512435.1:p.Pro81Ser
ENST00000696153.1:c.241C>T ENSP00000512444.1:p.Pro81Ser
ENST00000256474.3:c.241C>T MANE Select ENSP00000256474.3:p.Pro81Ser
ENST00000256474.2:c.241C>T ENSP00000256474.2:p.Pro81Ser
ENST00000345392.2:c.241C>T ENSP00000344757.2:p.Pro81Ser
NM_000551.3:c.241C>T , LRG_322t1:c.241C>T NP_000542.1:p.Pro81Ser
NM_198156.2:c.241C>T NP_937799.1:p.Pro81Ser
XM_011534078.1:c.241C>T XP_011532380.1:p.Pro81Ser
NM_001354723.1:c.241C>T NP_001341652.1:p.Pro81Ser
NM_000551.4:c.241C>T MANE Select NP_000542.1:p.Pro81Ser
NM_001354723.2:c.241C>T NP_001341652.1:p.Pro81Ser
NM_198156.3:c.241C>T NP_937799.1:p.Pro81Ser
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