Canonical Allele Identifier: CA168906895

Gene:

Linked Data

• dbSNP Id: rs1053800518
• gnomAD v3: 7-148560883-G-A
• gnomAD v4: 7-148560883-G-A
• MyVariant Identifiers: chr7:g.148257975G>A (hg19) ; chr7:g.148560883G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148560883G>A , CM000669.2:g.148560883G>A	GRCh38
NC_000007.13:g.148257975G>A , CM000669.1:g.148257975G>A	GRCh37
NC_000007.12:g.147888908G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_928099.1:n.300+7217C>T
XR_928100.1:n.433+7217C>T