Canonical Allele Identifier: CA165047074

Gene:

Linked Data

• dbSNP Id: rs188858162
• gnomAD v3: 7-112988323-G-A
• gnomAD v4: 7-112988323-G-A
• MyVariant Identifiers: chr7:g.112628378G>A (hg19) ; chr7:g.112988323G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.112988323G>A , CM000669.2:g.112988323G>A	GRCh38
NC_000007.13:g.112628378G>A , CM000669.1:g.112628378G>A	GRCh37
NC_000007.12:g.112415614G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_110162.1:n.77-1659C>T