Canonical Allele Identifier: CA70041750

Gene: VHL

Linked Data

• dbSNP Id: rs1007277324
• gnomAD v4: 3-10141626-T-C
• MyVariant Identifiers: chr3:g.10183310T>C (hg19) ; chr3:g.10141626T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141626T>C , CM000665.2:g.10141626T>C	GRCh38
NC_000003.11:g.10183310T>C , CM000665.1:g.10183310T>C	GRCh37
NC_000003.10:g.10158310T>C	NCBI36
NG_008212.3:g.4992T>C , LRG_322:g.4992T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256474.2:c.-222T>C	ENSP00000256474.2:n.-222T>C