Canonical Allele Identifier: CA245041529

Gene: NOS1

Linked Data

• dbSNP Id: rs535149696
• gnomAD v3: 12-117439627-G-A
• gnomAD v4: 12-117439627-G-A
• MyVariant Identifiers: chr12:g.117877432G>A (hg19) ; chr12:g.117439627G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117439627G>A , CM000674.2:g.117439627G>A	GRCh38
NC_000012.11:g.117877432G>A , CM000674.1:g.117877432G>A	GRCh37
NC_000012.10:g.116361815G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549189.1:n.470+12074C>T