Canonical Allele Identifier: CA833583216

Gene:

Linked Data

• dbSNP Id: rs1019069488
• gnomAD v3: 7-13400443-G-A
• gnomAD v4: 7-13400443-G-A
• MyVariant Identifiers: chr7:g.13440068G>A (hg19) ; chr7:g.13400443G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.13400443G>A , CM000669.2:g.13400443G>A	GRCh38
NC_000007.13:g.13440068G>A , CM000669.1:g.13440068G>A	GRCh37
NC_000007.12:g.13406593G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745097.1:n.147+90120G>A