Canonical Allele Identifier: CA1044994379
Gene: VHL HGNC NCBI

Linked Data

gnomAD v3: 3-10141546-A-C
gnomAD v4: 3-10141546-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141546A>C , CM000665.2:g.10141546A>C GRCh38
NC_000003.11:g.10183230A>C , CM000665.1:g.10183230A>C GRCh37
NC_000003.10:g.10158230A>C NCBI36
NG_008212.3:g.4912A>C , LRG_322:g.4912A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-302A>C ENSP00000256474.2:n.-302A>C