Canonical Allele Identifier: CA2664399802
Gene: VHL HGNC NCBI

Linked Data

gnomAD v4: 3-10141732-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141732A>T , CM000665.2:g.10141732A>T GRCh38
NC_000003.11:g.10183416A>T , CM000665.1:g.10183416A>T GRCh37
NC_000003.10:g.10158416A>T NCBI36
NG_008212.3:g.5098A>T , LRG_322:g.5098A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-116A>T ENSP00000256474.2:n.-116A>T
NM_000551.3:c.-116A>T , LRG_322t1:c.-116A>T NP_000542.1:n.-116A>T
NM_198156.2:c.-116A>T NP_937799.1:n.-116A>T
NM_001354723.1:c.-116A>T NP_001341652.1:n.-116A>T
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