Canonical Allele Identifier: CA684157587

Gene: NOS1

Linked Data

• dbSNP Id: rs1197231427
• gnomAD v3: 12-117314259-G-C
• gnomAD v4: 12-117314259-G-C
• MyVariant Identifiers: chr12:g.117752064G>C (hg19) ; chr12:g.117314259G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117314259G>C , CM000674.2:g.117314259G>C	GRCh38
NC_000012.11:g.117752064G>C , CM000674.1:g.117752064G>C	GRCh37
NC_000012.10:g.116236447G>C	NCBI36
NG_011991.2:g.52519C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.726-2667C>G MANE Select	ENSP00000320758.6:n.726-2667C>G
ENST00000317775.10:c.726-2667C>G	ENSP00000320758.6:n.726-2667C>G
ENST00000338101.8:c.726-2667C>G	ENSP00000337459.4:n.726-2667C>G
ENST00000344089.4:c.723-2667C>G	ENSP00000339862.4:n.723-2667C>G
ENST00000618760.4:c.726-2667C>G	ENSP00000477999.1:n.726-2667C>G
NM_000620.4:c.726-2667C>G	NP_000611.1:n.726-2667C>G
NM_001204218.1:c.726-2667C>G	NP_001191147.1:n.726-2667C>G
XM_011538398.1:c.726-2667C>G	XP_011536700.1:n.726-2667C>G
NM_000620.5:c.726-2667C>G MANE Select	NP_000611.1:n.726-2667C>G
NM_001204218.2:c.726-2667C>G	NP_001191147.1:n.726-2667C>G