Canonical Allele Identifier: CA369864743

Gene: NOS3

Linked Data

• dbSNP Id: rs1795290852
• gnomAD v4: 7-151010905-T-A
• MyVariant Identifiers: chr7:g.150707993T>A (hg19) ; chr7:g.151010905T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151010905T>A , CM000669.2:g.151010905T>A	GRCh38
NC_000007.13:g.150707993T>A , CM000669.1:g.150707993T>A	GRCh37
NC_000007.12:g.150338926T>A	NCBI36
NG_011992.1:g.24847T>A
NG_030317.1:g.18595A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297494.8:c.2903T>A MANE Select	ENSP00000297494.3:p.Leu968Gln
ENST00000297494.7:c.2903T>A	ENSP00000297494.3:p.Leu968Gln
ENST00000461406.5:c.2285T>A	ENSP00000417143.1:p.Leu762Gln
ENST00000468293.5:n.386T>A
ENST00000475017.1:c.784T>A
ENST00000477227.1:n.282T>A
NM_000603.4:c.2903T>A	NP_000594.2:p.Leu968Gln
NM_000603.5:c.2903T>A MANE Select	NP_000594.2:p.Leu968Gln