Canonical Allele Identifier: CA578703943

Gene: NOS3

Linked Data

• dbSNP Id: rs1280663130
• gnomAD v2: 7-150700960-G-A
• gnomAD v3: 7-151003872-G-A
• gnomAD v4: 7-151003872-G-A
• MyVariant Identifiers: chr7:g.150700960G>A (hg19) ; chr7:g.151003872G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151003872G>A , CM000669.2:g.151003872G>A	GRCh38
NC_000007.13:g.150700960G>A , CM000669.1:g.150700960G>A	GRCh37
NC_000007.12:g.150331893G>A	NCBI36
NG_011992.1:g.17814G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297494.8:c.1752+1568G>A MANE Select	ENSP00000297494.3:n.1752+1568G>A
ENST00000297494.7:c.1752+1568G>A	ENSP00000297494.3:n.1752+1568G>A
ENST00000461406.5:c.1134+1568G>A	ENSP00000417143.1:n.1134+1568G>A
ENST00000467517.1:c.2314G>A	ENSP00000420551.1:n.2314G>A
ENST00000484524.5:c.2474G>A	ENSP00000420215.1:n.2474G>A
NM_000603.4:c.1752+1568G>A	NP_000594.2:n.1752+1568G>A
NM_001160109.1:c.1968G>A	NP_001153581.1:n.1968G>A
NM_001160110.1:c.2314G>A	NP_001153582.1:n.2314G>A
NM_001160111.1:c.2474G>A	NP_001153583.1:n.2474G>A
XM_006716002.2:c.1752+1568G>A	XP_006716065.1:n.1752+1568G>A
NM_000603.5:c.1752+1568G>A MANE Select	NP_000594.2:n.1752+1568G>A
NM_001160109.2:c.*177G>A	NP_001153581.1:n.*177G>A