Canonical Allele Identifier: CA540875321
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1370284640
gnomAD v2: 3-10183232-A-C
gnomAD v3: 3-10141548-A-C
gnomAD v4: 3-10141548-A-C
MyVariant Identifiers: chr3:g.10183232A>C (hg19) chr3:g.10141548A>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-300A>C ENSP00000256474.2:n.-300A>C
Search 100 bp 5'
Search 100 bp 3'