Canonical Allele Identifier: CA952313404

Gene: NOS1

Linked Data

• dbSNP Id: rs1592882315
• gnomAD v3: 12-117439625-G-C
• gnomAD v4: 12-117439625-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117439625G>C , CM000674.2:g.117439625G>C	GRCh38
NC_000012.11:g.117877430G>C , CM000674.1:g.117877430G>C	GRCh37
NC_000012.10:g.116361813G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549189.1:n.470+12076C>G