Canonical Allele Identifier: CA210712
Gene: NOS1 HGNC NCBI
gnomAD v2:
12:117877485 C / T
gnomAD v3:
12:117439680 C / T
gnomAD v4:
chr12-117439680-C-T
Joint Max Group AF 0.16346221 (EAS)
Genomes Max Group AF 0.16346221 (EAS)
ClinVar RCV:
RCV000015050
ClinVar Variation:
14012
dbSNP:
41279104
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.117439680C>T , CM000674.2:g.117439680C>T GRCh38
NC_000012.11:g.117877485C>T , CM000674.1:g.117877485C>T GRCh37
NC_000012.10:g.116361868C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000549189.1:n.470+12021G>A
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Search 100 bp 3'