Canonical Allele Identifier: CA2664399668
Gene: VHL HGNC NCBI

Linked Data

gnomAD v4: 3-10141637-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141637T>A , CM000665.2:g.10141637T>A GRCh38
NC_000003.11:g.10183321T>A , CM000665.1:g.10183321T>A GRCh37
NC_000003.10:g.10158321T>A NCBI36
NG_008212.3:g.5003T>A , LRG_322:g.5003T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-211T>A ENSP00000256474.2:n.-211T>A
NM_000551.3:c.-211T>A , LRG_322t1:c.-211T>A NP_000542.1:n.-211T>A
NM_198156.2:c.-211T>A NP_937799.1:n.-211T>A
NM_001354723.1:c.-211T>A NP_001341652.1:n.-211T>A