Canonical Allele Identifier: CA123702
Gene: NOS3 HGNC NCBI
COSMIC:
COSM6338628 (not active)
MyVariant.info:
GRCh38 chr7:g.150999023T>G
GRCh37 chr7:g.150696111T>G
Revel Score:
ENST00000297494 (MANE Select) 0.057
ENST00000461406 0.057
ENST00000484524 0.057
ENST00000467517 0.057
gnomAD v2:
7:150696111 T / G
gnomAD v3:
7:150999023 T / G
gnomAD v4:
chr7-150999023-T-G
Joint Max Group AF 0.89644111 (EAS)
Genomes Max Group AF 0.87869357 (AFR)
Exomes Max Group AF 0.89804559 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150999023T>G , CM000669.2:g.150999023T>G GRCh38
NC_000007.13:g.150696111T>G , CM000669.1:g.150696111T>G GRCh37
NC_000007.12:g.150327044T>G NCBI36
NG_011992.1:g.12965T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297494.8:c.894T>G MANE Select ENSP00000297494.3:p.Asp298Glu
ENST00000297494.7:c.894T>G ENSP00000297494.3:p.Asp298Glu
ENST00000461406.5:c.276T>G ENSP00000417143.1:p.Asp92Glu
ENST00000467517.1:c.894T>G ENSP00000420551.1:p.Asp298Glu
ENST00000484524.5:c.894T>G ENSP00000420215.1:p.Asp298Glu
NM_000603.4:c.894T>G NP_000594.2:p.Asp298Glu
NM_001160109.1:c.894T>G NP_001153581.1:p.Asp298Glu
NM_001160110.1:c.894T>G NP_001153582.1:p.Asp298Glu
NM_001160111.1:c.894T>G NP_001153583.1:p.Asp298Glu
XM_006716002.2:c.894T>G XP_006716065.1:p.Asp298Glu
NM_000603.5:c.894T>G MANE Select NP_000594.2:p.Asp298Glu
NM_001160109.2:c.894T>G NP_001153581.1:p.Asp298Glu
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