Canonical Allele Identifier: CA70041680

Gene: VHL

Linked Data

• ClinVar Variation Id: 1267817
• ClinVar RCV Id: RCV001678370
• dbSNP Id: rs36068404
• gnomAD v2: 3-10183241-C-CAAA
• gnomAD v3: 3-10141557-C-CAAA
• gnomAD v4: 3-10141557-C-CAAA
• MyVariant Identifiers: chr3:g.10183241_10183242insAAA (hg19) ; chr3:g.10141557_10141558insAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141569_10141571dup , CM000665.2:g.10141569_10141571dup	GRCh38
NC_000003.11:g.10183253_10183255dup , CM000665.1:g.10183253_10183255dup	GRCh37
NC_000003.10:g.10158253_10158255dup	NCBI36
NG_008212.3:g.4935_4937dup , LRG_322:g.4935_4937dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256474.2:c.-279_-277dup	ENSP00000256474.2:n.-279_-277dup