Canonical Allele Identifier: CA1044994383
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1397603853
gnomAD v3: 3-10141552-T-C
gnomAD v4: 3-10141552-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141552T>C , CM000665.2:g.10141552T>C GRCh38
NC_000003.11:g.10183236T>C , CM000665.1:g.10183236T>C GRCh37
NC_000003.10:g.10158236T>C NCBI36
NG_008212.3:g.4918T>C , LRG_322:g.4918T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-296T>C ENSP00000256474.2:n.-296T>C
Search 100 bp 5'
Search 100 bp 3'