Canonical Allele Identifier: CA578882609

Gene:

Linked Data

• dbSNP Id: rs1458913676
• gnomAD v2: 7-148258003-C-T
• gnomAD v3: 7-148560911-C-T
• gnomAD v4: 7-148560911-C-T
• MyVariant Identifiers: chr7:g.148258003C>T (hg19) ; chr7:g.148560911C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148560911C>T , CM000669.2:g.148560911C>T	GRCh38
NC_000007.13:g.148258003C>T , CM000669.1:g.148258003C>T	GRCh37
NC_000007.12:g.147888936C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928099.1:n.300+7189G>A
XR_928100.1:n.433+7189G>A