Canonical Allele Identifier: CA575857516

Gene:

Linked Data

• gnomAD v2: 7-87543040-C-A
• MyVariant Identifiers: chr7:g.87543040C>A (hg19) ; chr7:g.87913725C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87913725C>A , CM000669.2:g.87913725C>A	GRCh38
NC_000007.13:g.87543040C>A , CM000669.1:g.87543040C>A	GRCh37
NC_000007.12:g.87380976C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_927723.1:n.148+176G>T
XR_927724.1:n.192+176G>T