Canonical Allele Identifier: CA684138808

Gene: NOS1

Linked Data

• dbSNP Id: rs1338093052
• gnomAD v3: 12-117439720-G-T
• gnomAD v4: 12-117439720-G-T
• MyVariant Identifiers: chr12:g.117877525G>T (hg19) ; chr12:g.117439720G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117439720G>T , CM000674.2:g.117439720G>T	GRCh38
NC_000012.11:g.117877525G>T , CM000674.1:g.117877525G>T	GRCh37
NC_000012.10:g.116361908G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000549189.1:n.470+11981C>A