Canonical Allele Identifier: CA1108522410

Gene:

Linked Data

• dbSNP Id: rs1795950109
• gnomAD v3: 7-148560872-C-G
• gnomAD v4: 7-148560872-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148560872C>G , CM000669.2:g.148560872C>G	GRCh38
NC_000007.13:g.148257964C>G , CM000669.1:g.148257964C>G	GRCh37
NC_000007.12:g.147888897C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_928099.1:n.300+7228G>C
XR_928100.1:n.433+7228G>C