Canonical Allele Identifier: CA540875326

Gene: VHL

Linked Data

• dbSNP Id: rs1449532259
• gnomAD v2: 3-10183237-G-A
• gnomAD v4: 3-10141553-G-A
• MyVariant Identifiers: chr3:g.10183237G>A (hg19) ; chr3:g.10141553G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141553G>A , CM000665.2:g.10141553G>A	GRCh38
NC_000003.11:g.10183237G>A , CM000665.1:g.10183237G>A	GRCh37
NC_000003.10:g.10158237G>A	NCBI36
NG_008212.3:g.4919G>A , LRG_322:g.4919G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256474.2:c.-295G>A	ENSP00000256474.2:n.-295G>A