Canonical Allele Identifier: CA432420185
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1370284640
gnomAD v2: 3-10183232-A-T
gnomAD v3: 3-10141548-A-T
gnomAD v4: 3-10141548-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141548A>T , CM000665.2:g.10141548A>T GRCh38
NC_000003.11:g.10183232A>T , CM000665.1:g.10183232A>T GRCh37
NC_000003.10:g.10158232A>T NCBI36
NG_008212.3:g.4914A>T , LRG_322:g.4914A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-300A>T ENSP00000256474.2:n.-300A>T