Canonical Allele Identifier: CA1108714574
Gene: NOS3 HGNC NCBI

Linked Data

dbSNP Id: rs1802274259
gnomAD v3: 7-150992493-A-G
gnomAD v4: 7-150992493-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150992493A>G , CM000669.2:g.150992493A>G GRCh38
NC_000007.13:g.150689581A>G , CM000669.1:g.150689581A>G GRCh37
NC_000007.12:g.150320514A>G NCBI36
NG_011992.1:g.6435A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297494.8:c.-52+1193A>G MANE Select ENSP00000297494.3:n.-52+1193A>G
ENST00000297494.7:c.-52+1193A>G ENSP00000297494.3:n.-52+1193A>G
ENST00000461406.5:c.-149+1193A>G ENSP00000417143.1:n.-149+1193A>G
NM_000603.4:c.-52+1193A>G NP_000594.2:n.-52+1193A>G
NM_000603.5:c.-52+1193A>G MANE Select NP_000594.2:n.-52+1193A>G
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