Canonical Allele Identifier: CA245041524

Gene: NOS1

Linked Data

• dbSNP Id: rs771414314
• gnomAD v2: 12-117877416-G-A
• gnomAD v3: 12-117439611-G-A
• gnomAD v4: 12-117439611-G-A
• MyVariant Identifiers: chr12:g.117877416G>A (hg19) ; chr12:g.117439611G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117439611G>A , CM000674.2:g.117439611G>A	GRCh38
NC_000012.11:g.117877416G>A , CM000674.1:g.117877416G>A	GRCh37
NC_000012.10:g.116361799G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549189.1:n.470+12090C>T