Canonical Allele Identifier: CA245041527

Gene: NOS1

Linked Data

• dbSNP Id: rs866696367
• gnomAD v2: 12-117877428-G-A
• gnomAD v3: 12-117439623-G-A
• gnomAD v4: 12-117439623-G-A
• COSMIC: COSN7312346
• MyVariant Identifiers: chr12:g.117877428G>A (hg19) ; chr12:g.117439623G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117439623G>A , CM000674.2:g.117439623G>A	GRCh38
NC_000012.11:g.117877428G>A , CM000674.1:g.117877428G>A	GRCh37
NC_000012.10:g.116361811G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549189.1:n.470+12078C>T