Canonical Allele Identifier: CA4567048

Gene: NOS3

Linked Data

• dbSNP Id: rs142781987
• ExAC: 7:150699051 C / T
• gnomAD v2: 7-150699051-C-T
• gnomAD v4: 7-151001963-C-T
• COSMIC: COSM3261147
• MyVariant Identifiers: chr7:g.150699051C>T (hg19) ; chr7:g.151001963C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151001963C>T , CM000669.2:g.151001963C>T	GRCh38
NC_000007.13:g.150699051C>T , CM000669.1:g.150699051C>T	GRCh37
NC_000007.12:g.150329984C>T	NCBI36
NG_011992.1:g.15905C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297494.8:c.1645C>T MANE Select	ENSP00000297494.3:p.Arg549Trp
ENST00000297494.7:c.1645C>T	ENSP00000297494.3:p.Arg549Trp
ENST00000460603.1:n.97C>T
ENST00000461406.5:c.1027C>T	ENSP00000417143.1:p.Arg343Trp
ENST00000467517.1:c.1645C>T	ENSP00000420551.1:p.Arg549Trp
ENST00000484524.5:c.1645C>T	ENSP00000420215.1:p.Arg549Trp
NM_000603.4:c.1645C>T	NP_000594.2:p.Arg549Trp
NM_001160109.1:c.1645C>T	NP_001153581.1:p.Arg549Trp
NM_001160110.1:c.1645C>T	NP_001153582.1:p.Arg549Trp
NM_001160111.1:c.1645C>T	NP_001153583.1:p.Arg549Trp
XM_006716002.2:c.1645C>T	XP_006716065.1:p.Arg549Trp
NM_000603.5:c.1645C>T MANE Select	NP_000594.2:p.Arg549Trp
NM_001160109.2:c.1645C>T	NP_001153581.1:p.Arg549Trp