Canonical Allele Identifier: CA578703340

Gene: NOS3

Linked Data

• dbSNP Id: rs1200637196
• gnomAD v2: 7-150699882-A-G
• gnomAD v3: 7-151002794-A-G
• gnomAD v4: 7-151002794-A-G
• MyVariant Identifiers: chr7:g.150699882A>G (hg19) ; chr7:g.151002794A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151002794A>G , CM000669.2:g.151002794A>G	GRCh38
NC_000007.13:g.150699882A>G , CM000669.1:g.150699882A>G	GRCh37
NC_000007.12:g.150330815A>G	NCBI36
NG_011992.1:g.16736A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000297494.8:c.1752+490A>G MANE Select	ENSP00000297494.3:n.1752+490A>G
ENST00000297494.7:c.1752+490A>G	ENSP00000297494.3:n.1752+490A>G
ENST00000460603.1:n.205-42A>G
ENST00000461406.5:c.1134+490A>G	ENSP00000417143.1:n.1134+490A>G
ENST00000467517.1:c.1752+490A>G	ENSP00000420551.1:n.1752+490A>G
ENST00000484524.5:c.1753-357A>G	ENSP00000420215.1:n.1753-357A>G
NM_000603.4:c.1752+490A>G	NP_000594.2:n.1752+490A>G
NM_001160109.1:c.1752+490A>G	NP_001153581.1:n.1752+490A>G
NM_001160110.1:c.1752+490A>G	NP_001153582.1:n.1752+490A>G
NM_001160111.1:c.1753-357A>G	NP_001153583.1:n.1753-357A>G
XM_006716002.2:c.1752+490A>G	XP_006716065.1:n.1752+490A>G
NM_000603.5:c.1752+490A>G MANE Select	NP_000594.2:n.1752+490A>G
NM_001160109.2:c.1752+490A>G	NP_001153581.1:n.1752+490A>G