Canonical Allele Identifier: CA2664399824
Gene: VHL HGNC NCBI

Linked Data

gnomAD v4: 3-10141748-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141748G>T , CM000665.2:g.10141748G>T GRCh38
NC_000003.11:g.10183432G>T , CM000665.1:g.10183432G>T GRCh37
NC_000003.10:g.10158432G>T NCBI36
NG_008212.3:g.5114G>T , LRG_322:g.5114G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-100G>T ENSP00000256474.2:n.-100G>T
NM_000551.3:c.-100G>T , LRG_322t1:c.-100G>T NP_000542.1:n.-100G>T
NM_198156.2:c.-100G>T NP_937799.1:n.-100G>T
NM_001354723.1:c.-100G>T NP_001341652.1:n.-100G>T