Canonical Allele Identifier: CA2685605822

Gene: NOS3

Linked Data

• gnomAD v4: 7-151002743-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151002743G>A , CM000669.2:g.151002743G>A	GRCh38
NC_000007.13:g.150699831G>A , CM000669.1:g.150699831G>A	GRCh37
NC_000007.12:g.150330764G>A	NCBI36
NG_011992.1:g.16685G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297494.8:c.1752+439G>A MANE Select	ENSP00000297494.3:n.1752+439G>A
ENST00000297494.7:c.1752+439G>A	ENSP00000297494.3:n.1752+439G>A
ENST00000460603.1:n.205-93G>A
ENST00000461406.5:c.1134+439G>A	ENSP00000417143.1:n.1134+439G>A
ENST00000467517.1:c.1752+439G>A	ENSP00000420551.1:n.1752+439G>A
ENST00000484524.5:c.1753-408G>A	ENSP00000420215.1:n.1753-408G>A
NM_000603.4:c.1752+439G>A	NP_000594.2:n.1752+439G>A
NM_001160109.1:c.1752+439G>A	NP_001153581.1:n.1752+439G>A
NM_001160110.1:c.1752+439G>A	NP_001153582.1:n.1752+439G>A
NM_001160111.1:c.1753-408G>A	NP_001153583.1:n.1753-408G>A
XM_006716002.2:c.1752+439G>A	XP_006716065.1:n.1752+439G>A
NM_000603.5:c.1752+439G>A MANE Select	NP_000594.2:n.1752+439G>A
NM_001160109.2:c.1752+439G>A	NP_001153581.1:n.1752+439G>A