Canonical Allele Identifier: CA169098143
Gene: NOS3 HGNC NCBI

Linked Data

dbSNP Id: rs934903541
gnomAD v3: 7-150992462-C-CT
gnomAD v4: 7-150992462-C-CT
MyVariant Identifiers: chr7:g.150689550_150689551insT (hg19) chr7:g.150992462_150992463insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150992463dup , CM000669.2:g.150992463dup GRCh38
NC_000007.13:g.150689551dup , CM000669.1:g.150689551dup GRCh37
NC_000007.12:g.150320484dup NCBI36
NG_011992.1:g.6405dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000297494.8:c.-52+1163dup MANE Select ENSP00000297494.3:n.-52+1163dup
ENST00000297494.7:c.-52+1163dup ENSP00000297494.3:n.-52+1163dup
ENST00000461406.5:c.-149+1163dup ENSP00000417143.1:n.-149+1163dup
NM_000603.4:c.-52+1163dup NP_000594.2:n.-52+1163dup
NM_000603.5:c.-52+1163dup MANE Select NP_000594.2:n.-52+1163dup
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