Canonical Allele Identifier: CA10614384
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 342400
dbSNP Id: rs772944298
gnomAD v2: 3-10183468-C-T
gnomAD v3: 3-10141784-C-T
gnomAD v4: 3-10141784-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141784C>T , CM000665.2:g.10141784C>T GRCh38
NC_000003.11:g.10183468C>T , CM000665.1:g.10183468C>T GRCh37
NC_000003.10:g.10158468C>T NCBI36
NG_008212.3:g.5150C>T , LRG_322:g.5150C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.-64C>T ENSP00000512444.1:n.-64C>T
ENST00000256474.3:c.-64C>T MANE Select ENSP00000256474.3:n.-64C>T
ENST00000256474.2:c.-64C>T ENSP00000256474.2:n.-64C>T
NM_000551.3:c.-64C>T , LRG_322t1:c.-64C>T NP_000542.1:n.-64C>T
NM_198156.2:c.-64C>T NP_937799.1:n.-64C>T
XM_011534078.1:c.-64C>T XP_011532380.1:n.-64C>T
NM_001354723.1:c.-64C>T NP_001341652.1:n.-64C>T
NM_000551.4:c.-64C>T MANE Select NP_000542.1:n.-64C>T
NM_001354723.2:c.-64C>T NP_001341652.1:n.-64C>T
NM_198156.3:c.-64C>T NP_937799.1:n.-64C>T