Canonical Allele Identifier: CA70041643

Gene: VHL

Linked Data

• dbSNP Id: rs563750171
• gnomAD v2: 3-10183167-G-C
• gnomAD v3: 3-10141483-G-C
• gnomAD v4: 3-10141483-G-C
• MyVariant Identifiers: chr3:g.10183167G>C (hg19) ; chr3:g.10141483G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141483G>C , CM000665.2:g.10141483G>C	GRCh38
NC_000003.11:g.10183167G>C , CM000665.1:g.10183167G>C	GRCh37
NC_000003.10:g.10158167G>C	NCBI36
NG_008212.3:g.4849G>C , LRG_322:g.4849G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256474.2:c.-365G>C	ENSP00000256474.2:n.-365G>C