Canonical Allele Identifier: CA422484314

Gene:

Linked Data

• dbSNP Id: rs1482924452
• gnomAD v2: 1-192769715-G-A
• gnomAD v3: 1-192800585-G-A
• gnomAD v4: 1-192800585-G-A
• MyVariant Identifiers: chr1:g.192769715G>A (hg19) ; chr1:g.192769715_192769717delinsAAA (hg19) ; chr1:g.192800585G>A (hg38) ; chr1:g.192800585_192800587delinsAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.192800585G>A , CM000663.2:g.192800585G>A	GRCh38
NC_000001.10:g.192769715G>A , CM000663.1:g.192769715G>A	GRCh37
NC_000001.9:g.191036338G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429211.2:n.15G>A