Canonical Allele Identifier: CA169098267

Gene: NOS3

Linked Data

• dbSNP Id: rs751853767
• gnomAD v2: 7-150689820-C-G
• gnomAD v3: 7-150992732-C-G
• gnomAD v4: 7-150992732-C-G
• MyVariant Identifiers: chr7:g.150689820C>G (hg19) ; chr7:g.150992732C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150992732C>G , CM000669.2:g.150992732C>G	GRCh38
NC_000007.13:g.150689820C>G , CM000669.1:g.150689820C>G	GRCh37
NC_000007.12:g.150320753C>G	NCBI36
NG_011992.1:g.6674C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297494.8:c.-51-1021C>G MANE Select	ENSP00000297494.3:n.-51-1021C>G
ENST00000297494.7:c.-51-1021C>G	ENSP00000297494.3:n.-51-1021C>G
ENST00000461406.5:c.-149+1432C>G	ENSP00000417143.1:n.-149+1432C>G
NM_000603.4:c.-51-1021C>G	NP_000594.2:n.-51-1021C>G
NM_000603.5:c.-51-1021C>G MANE Select	NP_000594.2:n.-51-1021C>G