Canonical Allele Identifier: CA952313449

Gene: NOS1

Linked Data

• dbSNP Id: rs1870090856
• gnomAD v3: 12-117439705-G-T
• gnomAD v4: 12-117439705-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117439705G>T , CM000674.2:g.117439705G>T	GRCh38
NC_000012.11:g.117877510G>T , CM000674.1:g.117877510G>T	GRCh37
NC_000012.10:g.116361893G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549189.1:n.470+11996C>A