Canonical Allele Identifier: CA2664399690
Gene: VHL HGNC NCBI

Linked Data

gnomAD v4: 3-10141648-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141648A>G , CM000665.2:g.10141648A>G GRCh38
NC_000003.11:g.10183332A>G , CM000665.1:g.10183332A>G GRCh37
NC_000003.10:g.10158332A>G NCBI36
NG_008212.3:g.5014A>G , LRG_322:g.5014A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-200A>G ENSP00000256474.2:n.-200A>G
NM_000551.3:c.-200A>G , LRG_322t1:c.-200A>G NP_000542.1:n.-200A>G
NM_198156.2:c.-200A>G NP_937799.1:n.-200A>G
NM_001354723.1:c.-200A>G NP_001341652.1:n.-200A>G