Canonical Allele Identifier: CA432535972
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs112774138
gnomAD v2: 3-10183328-C-T
gnomAD v3: 3-10141644-C-T
gnomAD v4: 3-10141644-C-T
MyVariant Identifiers: chr3:g.10183328C>T (hg19) chr3:g.10141644C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141644C>T , CM000665.2:g.10141644C>T GRCh38
NC_000003.11:g.10183328C>T , CM000665.1:g.10183328C>T GRCh37
NC_000003.10:g.10158328C>T NCBI36
NG_008212.3:g.5010C>T , LRG_322:g.5010C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-204C>T ENSP00000256474.2:n.-204C>T
NM_000551.3:c.-204C>T , LRG_322t1:c.-204C>T NP_000542.1:n.-204C>T
NM_198156.2:c.-204C>T NP_937799.1:n.-204C>T
NM_001354723.1:c.-204C>T NP_001341652.1:n.-204C>T
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