Canonical Allele Identifier: CA2577505214
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141760C>G , CM000665.2:g.10141760C>G GRCh38
NC_000003.11:g.10183444C>G , CM000665.1:g.10183444C>G GRCh37
NC_000003.10:g.10158444C>G NCBI36
NG_008212.3:g.5126C>G , LRG_322:g.5126C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-88C>G ENSP00000256474.2:n.-88C>G
NM_000551.3:c.-88C>G , LRG_322t1:c.-88C>G NP_000542.1:n.-88C>G
NM_198156.2:c.-88C>G NP_937799.1:n.-88C>G
NM_001354723.1:c.-88C>G NP_001341652.1:n.-88C>G