Canonical Allele Identifier: CA2664399694
Gene: VHL HGNC NCBI

Linked Data

gnomAD v4: 3-10141650-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141650A>C , CM000665.2:g.10141650A>C GRCh38
NC_000003.11:g.10183334A>C , CM000665.1:g.10183334A>C GRCh37
NC_000003.10:g.10158334A>C NCBI36
NG_008212.3:g.5016A>C , LRG_322:g.5016A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-198A>C ENSP00000256474.2:n.-198A>C
NM_000551.3:c.-198A>C , LRG_322t1:c.-198A>C NP_000542.1:n.-198A>C
NM_198156.2:c.-198A>C NP_937799.1:n.-198A>C
NM_001354723.1:c.-198A>C NP_001341652.1:n.-198A>C