Canonical Allele Identifier: CA578712638
Gene: NOS3 HGNC NCBI

Linked Data

dbSNP Id: rs1259214655
gnomAD v2: 7-150689588-T-C
gnomAD v3: 7-150992500-T-C
gnomAD v4: 7-150992500-T-C
MyVariant Identifiers: chr7:g.150689588T>C (hg19) chr7:g.150992500T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150992500T>C , CM000669.2:g.150992500T>C GRCh38
NC_000007.13:g.150689588T>C , CM000669.1:g.150689588T>C GRCh37
NC_000007.12:g.150320521T>C NCBI36
NG_011992.1:g.6442T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297494.8:c.-52+1200T>C MANE Select ENSP00000297494.3:n.-52+1200T>C
ENST00000297494.7:c.-52+1200T>C ENSP00000297494.3:n.-52+1200T>C
ENST00000461406.5:c.-149+1200T>C ENSP00000417143.1:n.-149+1200T>C
NM_000603.4:c.-52+1200T>C NP_000594.2:n.-52+1200T>C
NM_000603.5:c.-52+1200T>C MANE Select NP_000594.2:n.-52+1200T>C
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