Canonical Allele Identifier: CA1106013340

Gene:

Linked Data

• dbSNP Id: rs1793099465
• gnomAD v3: 7-112988236-G-A
• gnomAD v4: 7-112988236-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.112988236G>A , CM000669.2:g.112988236G>A	GRCh38
NC_000007.13:g.112628291G>A , CM000669.1:g.112628291G>A	GRCh37
NC_000007.12:g.112415527G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_110162.1:n.77-1572C>T