Canonical Allele Identifier: CA1108714767
Gene: NOS3 HGNC NCBI

Linked Data

dbSNP Id: rs545556532
gnomAD v3: 7-150992952-C-A
gnomAD v4: 7-150992952-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150992952C>A , CM000669.2:g.150992952C>A GRCh38
NC_000007.13:g.150690040C>A , CM000669.1:g.150690040C>A GRCh37
NC_000007.12:g.150320973C>A NCBI36
NG_011992.1:g.6894C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297494.8:c.-51-801C>A MANE Select ENSP00000297494.3:n.-51-801C>A
ENST00000297494.7:c.-51-801C>A ENSP00000297494.3:n.-51-801C>A
ENST00000461406.5:c.-149+1652C>A ENSP00000417143.1:n.-149+1652C>A
NM_000603.4:c.-51-801C>A NP_000594.2:n.-51-801C>A
NM_000603.5:c.-51-801C>A MANE Select NP_000594.2:n.-51-801C>A
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