Canonical Allele Identifier: CA1108714571

Gene: NOS3

Linked Data

• dbSNP Id: rs1802274070
• gnomAD v3: 7-150992488-A-AGGGCACACT
• gnomAD v4: 7-150992488-A-AGGGCACACT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150992489_150992497dup , CM000669.2:g.150992489_150992497dup	GRCh38
NC_000007.13:g.150689577_150689585dup , CM000669.1:g.150689577_150689585dup	GRCh37
NC_000007.12:g.150320510_150320518dup	NCBI36
NG_011992.1:g.6431_6439dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297494.8:c.-52+1189_-52+1197dup MANE Select	ENSP00000297494.3:n.-52+1189_-52+1197dup
ENST00000297494.7:c.-52+1189_-52+1197dup	ENSP00000297494.3:n.-52+1189_-52+1197dup
ENST00000461406.5:c.-149+1189_-149+1197dup	ENSP00000417143.1:n.-149+1189_-149+1197dup
NM_000603.4:c.-52+1189_-52+1197dup	NP_000594.2:n.-52+1189_-52+1197dup
NM_000603.5:c.-52+1189_-52+1197dup MANE Select	NP_000594.2:n.-52+1189_-52+1197dup