Canonical Allele Identifier: CA12488591
Gene: NOS3 HGNC NCBI
COSMIC:
COSN19641649 (not active)
MyVariant.info:
GRCh38 chr7:g.151006827G>T
GRCh37 chr7:g.150703915G>T
gnomAD v2:
7:150703915 G / T
gnomAD v3:
7:151006827 G / T
gnomAD v4:
chr7-151006827-G-T
Joint Max Group AF 0.65048786 (AMR)
Genomes Max Group AF 0.59089008 (EAS)
Exomes Max Group AF 0.67329938 (AMR)
ClinVar RCV:
RCV001616826
ClinVar Variation:
1230779
dbSNP:
2853796
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151006827G>T , CM000669.2:g.151006827G>T GRCh38
NC_000007.13:g.150703915G>T , CM000669.1:g.150703915G>T GRCh37
NC_000007.12:g.150334848G>T NCBI36
NG_011992.1:g.20769G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297494.8:c.1821-62G>T MANE Select ENSP00000297494.3:n.1821-62G>T
ENST00000297494.7:c.1821-62G>T ENSP00000297494.3:n.1821-62G>T
ENST00000461406.5:c.1203-62G>T ENSP00000417143.1:n.1203-62G>T
NM_000603.4:c.1821-62G>T NP_000594.2:n.1821-62G>T
XM_006716002.2:c.1821-62G>T XP_006716065.1:n.1821-62G>T
NM_000603.5:c.1821-62G>T MANE Select NP_000594.2:n.1821-62G>T
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