Canonical Allele Identifier: CA1045001944
Gene: VHL HGNC NCBI

Linked Data

gnomAD v3: 3-10153383-C-T
gnomAD v4: 3-10153383-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10153383C>T , CM000665.2:g.10153383C>T GRCh38
NC_000003.11:g.10195067C>T , CM000665.1:g.10195067C>T GRCh37
NC_000003.10:g.10170067C>T NCBI36
NG_008212.3:g.16749C>T , LRG_322:g.16749C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*3418C>T ENSP00000512444.1:n.*3418C>T
ENST00000256474.3:c.*3418C>T MANE Select ENSP00000256474.3:n.*3418C>T
NM_000551.3:c.*3418C>T , LRG_322t1:c.*3418C>T NP_000542.1:n.*3418C>T
NM_198156.2:c.*3418C>T NP_937799.1:n.*3418C>T
NM_001354723.1:c.*3614C>T NP_001341652.1:n.*3614C>T
NM_000551.4:c.*3418C>T MANE Select NP_000542.1:n.*3418C>T
NM_001354723.2:c.*3614C>T NP_001341652.1:n.*3614C>T
NM_198156.3:c.*3418C>T NP_937799.1:n.*3418C>T
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