Canonical Allele Identifier: CA1108712128

Gene: NOS3

Linked Data

• dbSNP Id: rs1795164738
• gnomAD v3: 7-151003772-C-T
• gnomAD v4: 7-151003772-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151003772C>T , CM000669.2:g.151003772C>T	GRCh38
NC_000007.13:g.150700860C>T , CM000669.1:g.150700860C>T	GRCh37
NC_000007.12:g.150331793C>T	NCBI36
NG_011992.1:g.17714C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297494.8:c.1752+1468C>T MANE Select	ENSP00000297494.3:n.1752+1468C>T
ENST00000297494.7:c.1752+1468C>T	ENSP00000297494.3:n.1752+1468C>T
ENST00000461406.5:c.1134+1468C>T	ENSP00000417143.1:n.1134+1468C>T
ENST00000467517.1:c.2214C>T	ENSP00000420551.1:n.2214C>T
ENST00000484524.5:c.2374C>T	ENSP00000420215.1:n.2374C>T
NM_000603.4:c.1752+1468C>T	NP_000594.2:n.1752+1468C>T
NM_001160109.1:c.1868C>T	NP_001153581.1:n.1868C>T
NM_001160110.1:c.2214C>T	NP_001153582.1:n.2214C>T
NM_001160111.1:c.2374C>T	NP_001153583.1:n.2374C>T
XM_006716002.2:c.1752+1468C>T	XP_006716065.1:n.1752+1468C>T
NM_000603.5:c.1752+1468C>T MANE Select	NP_000594.2:n.1752+1468C>T
NM_001160109.2:c.*77C>T	NP_001153581.1:n.*77C>T