Canonical Allele Identifier: CA369858364

Gene: NOS3

Linked Data

• dbSNP Id: rs1459846323
• gnomAD v3: 7-151001931-T-A
• gnomAD v4: 7-151001931-T-A
• MyVariant Identifiers: chr7:g.150699019T>A (hg19) ; chr7:g.151001931T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151001931T>A , CM000669.2:g.151001931T>A	GRCh38
NC_000007.13:g.150699019T>A , CM000669.1:g.150699019T>A	GRCh37
NC_000007.12:g.150329952T>A	NCBI36
NG_011992.1:g.15873T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297494.8:c.1613T>A MANE Select	ENSP00000297494.3:p.Leu538Gln
ENST00000297494.7:c.1613T>A	ENSP00000297494.3:p.Leu538Gln
ENST00000460603.1:n.65T>A
ENST00000461406.5:c.995T>A	ENSP00000417143.1:p.Leu332Gln
ENST00000467517.1:c.1613T>A	ENSP00000420551.1:p.Leu538Gln
ENST00000484524.5:c.1613T>A	ENSP00000420215.1:p.Leu538Gln
NM_000603.4:c.1613T>A	NP_000594.2:p.Leu538Gln
NM_001160109.1:c.1613T>A	NP_001153581.1:p.Leu538Gln
NM_001160110.1:c.1613T>A	NP_001153582.1:p.Leu538Gln
NM_001160111.1:c.1613T>A	NP_001153583.1:p.Leu538Gln
XM_006716002.2:c.1613T>A	XP_006716065.1:p.Leu538Gln
NM_000603.5:c.1613T>A MANE Select	NP_000594.2:p.Leu538Gln
NM_001160109.2:c.1613T>A	NP_001153581.1:p.Leu538Gln