Canonical Allele Identifier: CA12525508
Gene: NOS3 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.151010400C>T
GRCh37 chr7:g.150707488C>T
gnomAD v2:
7:150707488 C / T
gnomAD v3:
7:151010400 C / T
gnomAD v4:
chr7-151010400-C-T
Joint Max Group AF 0.83569983 (SAS)
Genomes Max Group AF 0.81219488 (SAS)
Exomes Max Group AF 0.8361143 (SAS)
ClinVar RCV:
RCV001652379
ClinVar Variation:
1248545
dbSNP:
743507
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151010400C>T , CM000669.2:g.151010400C>T GRCh38
NC_000007.13:g.150707488C>T , CM000669.1:g.150707488C>T GRCh37
NC_000007.12:g.150338421C>T NCBI36
NG_011992.1:g.24342C>T
NG_030317.1:g.19100G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297494.8:c.2685+113C>T MANE Select ENSP00000297494.3:n.2685+113C>T
ENST00000297494.7:c.2685+113C>T ENSP00000297494.3:n.2685+113C>T
ENST00000461406.5:c.2067+113C>T ENSP00000417143.1:n.2067+113C>T
ENST00000475017.1:c.566+113C>T
NM_000603.4:c.2685+113C>T NP_000594.2:n.2685+113C>T
NM_000603.5:c.2685+113C>T MANE Select NP_000594.2:n.2685+113C>T
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