Canonical Allele Identifier: CA369854524

Gene: NOS3

Linked Data

• ClinVar Variation Id: 2274697
• ClinVar RCV Id: RCV004126430
• dbSNP Id: rs1221724980
• gnomAD v3: 7-150999048-C-G
• gnomAD v4: 7-150999048-C-G
• MyVariant Identifiers: chr7:g.150696136C>G (hg19) ; chr7:g.150999048C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150999048C>G , CM000669.2:g.150999048C>G	GRCh38
NC_000007.13:g.150696136C>G , CM000669.1:g.150696136C>G	GRCh37
NC_000007.12:g.150327069C>G	NCBI36
NG_011992.1:g.12990C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297494.8:c.919C>G MANE Select	ENSP00000297494.3:p.Pro307Ala
ENST00000297494.7:c.919C>G	ENSP00000297494.3:p.Pro307Ala
ENST00000461406.5:c.301C>G	ENSP00000417143.1:p.Pro101Ala
ENST00000467517.1:c.919C>G	ENSP00000420551.1:p.Pro307Ala
ENST00000484524.5:c.919C>G	ENSP00000420215.1:p.Pro307Ala
NM_000603.4:c.919C>G	NP_000594.2:p.Pro307Ala
NM_001160109.1:c.919C>G	NP_001153581.1:p.Pro307Ala
NM_001160110.1:c.919C>G	NP_001153582.1:p.Pro307Ala
NM_001160111.1:c.919C>G	NP_001153583.1:p.Pro307Ala
XM_006716002.2:c.919C>G	XP_006716065.1:p.Pro307Ala
NM_000603.5:c.919C>G MANE Select	NP_000594.2:p.Pro307Ala
NM_001160109.2:c.919C>G	NP_001153581.1:p.Pro307Ala