Canonical Allele Identifier: CA607800323

Gene: NOS1

Linked Data

• dbSNP Id: rs1470856111
• gnomAD v2: 12-117877531-C-T
• MyVariant Identifiers: chr12:g.117877531C>T (hg19) ; chr12:g.117439726C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117439726C>T , CM000674.2:g.117439726C>T	GRCh38
NC_000012.11:g.117877531C>T , CM000674.1:g.117877531C>T	GRCh37
NC_000012.10:g.116361914C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000549189.1:n.470+11975G>A