Canonical Allele Identifier: CA833583352

Gene:

Linked Data

• dbSNP Id: rs1424064912
• gnomAD v3: 7-13400539-A-G
• gnomAD v4: 7-13400539-A-G
• MyVariant Identifiers: chr7:g.13440164A>G (hg19) ; chr7:g.13400539A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.13400539A>G , CM000669.2:g.13400539A>G	GRCh38
NC_000007.13:g.13440164A>G , CM000669.1:g.13440164A>G	GRCh37
NC_000007.12:g.13406689A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745097.1:n.147+90216A>G