Canonical Allele Identifier: CA2664399779
Gene: VHL HGNC NCBI

Linked Data

gnomAD v4: 3-10141713-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141713C>T , CM000665.2:g.10141713C>T GRCh38
NC_000003.11:g.10183397C>T , CM000665.1:g.10183397C>T GRCh37
NC_000003.10:g.10158397C>T NCBI36
NG_008212.3:g.5079C>T , LRG_322:g.5079C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-135C>T ENSP00000256474.2:n.-135C>T
NM_000551.3:c.-135C>T , LRG_322t1:c.-135C>T NP_000542.1:n.-135C>T
NM_198156.2:c.-135C>T NP_937799.1:n.-135C>T
NM_001354723.1:c.-135C>T NP_001341652.1:n.-135C>T
Search 100 bp 5'
Search 100 bp 3'