Canonical Allele Identifier: CA4567345
Gene: NOS3 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.151009295C>A
GRCh37 chr7:g.150706383C>A
gnomAD v2:
7:150706383 C / A
gnomAD v3:
7:151009295 C / A
gnomAD v4:
chr7-151009295-C-A
Joint Max Group AF 0.96015587 (EAS)
Genomes Max Group AF 0.92279909 (EAS)
Exomes Max Group AF 0.9620901 (EAS)
ClinVar RCV:
RCV001674014
ClinVar Variation:
1261436
dbSNP:
753482
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151009295C>A , CM000669.2:g.151009295C>A GRCh38
NC_000007.13:g.150706383C>A , CM000669.1:g.150706383C>A GRCh37
NC_000007.12:g.150337316C>A NCBI36
NG_011992.1:g.23237C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297494.8:c.2324+28C>A MANE Select ENSP00000297494.3:n.2324+28C>A
ENST00000297494.7:c.2324+28C>A ENSP00000297494.3:n.2324+28C>A
ENST00000461406.5:c.1706+28C>A ENSP00000417143.1:n.1706+28C>A
ENST00000473057.1:n.268+28C>A
ENST00000475017.1:c.205+28C>A
NM_000603.4:c.2324+28C>A NP_000594.2:n.2324+28C>A
NM_000603.5:c.2324+28C>A MANE Select NP_000594.2:n.2324+28C>A
Search 100 bp 5'
Search 100 bp 3'