Canonical Allele Identifier: CA2664399832
Gene: VHL HGNC NCBI

Linked Data

gnomAD v4: 3-10141759-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141759T>C , CM000665.2:g.10141759T>C GRCh38
NC_000003.11:g.10183443T>C , CM000665.1:g.10183443T>C GRCh37
NC_000003.10:g.10158443T>C NCBI36
NG_008212.3:g.5125T>C , LRG_322:g.5125T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-89T>C ENSP00000256474.2:n.-89T>C
NM_000551.3:c.-89T>C , LRG_322t1:c.-89T>C NP_000542.1:n.-89T>C
NM_198156.2:c.-89T>C NP_937799.1:n.-89T>C
NM_001354723.1:c.-89T>C NP_001341652.1:n.-89T>C