Canonical Allele Identifier: CA245041549

Gene: NOS1

Linked Data

• dbSNP Id: rs557777762
• gnomAD v3: 12-117439732-C-G
• gnomAD v4: 12-117439732-C-G
• MyVariant Identifiers: chr12:g.117877537C>G (hg19) ; chr12:g.117439732C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117439732C>G , CM000674.2:g.117439732C>G	GRCh38
NC_000012.11:g.117877537C>G , CM000674.1:g.117877537C>G	GRCh37
NC_000012.10:g.116361920C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549189.1:n.470+11969G>C