Canonical Allele Identifier: CA684156194

Gene: NOS1

Linked Data

• dbSNP Id: rs1443051909
• gnomAD v3: 12-117214969-C-T
• gnomAD v4: 12-117214969-C-T
• MyVariant Identifiers: chr12:g.117652774C>T (hg19) ; chr12:g.117214969C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117214969C>T , CM000674.2:g.117214969C>T	GRCh38
NC_000012.11:g.117652774C>T , CM000674.1:g.117652774C>T	GRCh37
NC_000012.10:g.116137157C>T	NCBI36
NG_011991.2:g.151809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317775.11:c.*340G>A MANE Select	ENSP00000320758.6:n.*340G>A
ENST00000317775.10:c.*340G>A	ENSP00000320758.6:n.*340G>A
ENST00000618760.4:c.*340G>A	ENSP00000477999.1:n.*340G>A
NM_000620.4:c.*340G>A	NP_000611.1:n.*340G>A
NM_001204213.1:c.*340G>A	NP_001191142.1:n.*340G>A
NM_001204214.1:c.*340G>A	NP_001191143.1:n.*340G>A
NM_001204218.1:c.*340G>A	NP_001191147.1:n.*340G>A
XM_011538398.1:c.*340G>A	XP_011536700.1:n.*340G>A
NM_000620.5:c.*340G>A MANE Select	NP_000611.1:n.*340G>A
NM_001204213.2:c.*340G>A	NP_001191142.1:n.*340G>A
NM_001204214.2:c.*340G>A	NP_001191143.1:n.*340G>A
NM_001204218.2:c.*340G>A	NP_001191147.1:n.*340G>A