Canonical Allele Identifier: CA13730128
Gene: NOS1 HGNC NCBI
gnomAD v2:
12:117652838 G / A
gnomAD v3:
12:117215033 G / A
gnomAD v4:
chr12-117215033-G-A
Joint Max Group AF 0.32939047 (EAS)
Genomes Max Group AF 0.30943772 (EAS)
Exomes Max Group AF 0.33171088 (EAS)
dbSNP:
2682826
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117215033G>A , CM000674.2:g.117215033G>A GRCh38
NC_000012.11:g.117652838G>A , CM000674.1:g.117652838G>A GRCh37
NC_000012.10:g.116137221G>A NCBI36
NG_011991.2:g.151745C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317775.11:c.*276C>T MANE Select ENSP00000320758.6:n.*276C>T
ENST00000317775.10:c.*276C>T ENSP00000320758.6:n.*276C>T
ENST00000618760.4:c.*276C>T ENSP00000477999.1:n.*276C>T
NM_000620.4:c.*276C>T NP_000611.1:n.*276C>T
NM_001204213.1:c.*276C>T NP_001191142.1:n.*276C>T
NM_001204214.1:c.*276C>T NP_001191143.1:n.*276C>T
NM_001204218.1:c.*276C>T NP_001191147.1:n.*276C>T
XM_011538398.1:c.*276C>T XP_011536700.1:n.*276C>T
NM_000620.5:c.*276C>T MANE Select NP_000611.1:n.*276C>T
NM_001204213.2:c.*276C>T NP_001191142.1:n.*276C>T
NM_001204214.2:c.*276C>T NP_001191143.1:n.*276C>T
NM_001204218.2:c.*276C>T NP_001191147.1:n.*276C>T
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