Canonical Allele Identifier: CA244260271

Gene: NOS1

Linked Data

• dbSNP Id: rs146441789
• gnomAD v2: 12-117795865-C-T
• gnomAD v3: 12-117358060-C-T
• gnomAD v4: 12-117358060-C-T
• MyVariant Identifiers: chr12:g.117795865C>T (hg19) ; chr12:g.117358060C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117358060C>T , CM000674.2:g.117358060C>T	GRCh38
NC_000012.11:g.117795865C>T , CM000674.1:g.117795865C>T	GRCh37
NC_000012.10:g.116280248C>T	NCBI36
NG_011991.2:g.8718G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000317775.11:c.-421+3452G>A MANE Select	ENSP00000320758.6:n.-421+3452G>A
ENST00000317775.10:c.-421+3452G>A	ENSP00000320758.6:n.-421+3452G>A
ENST00000477584.1:n.118+3452G>A
ENST00000549189.1:n.471-26571G>A
ENST00000618760.4:c.-421+3452G>A	ENSP00000477999.1:n.-421+3452G>A
NM_000620.4:c.-421+3452G>A	NP_000611.1:n.-421+3452G>A
NM_001204218.1:c.-421+3452G>A	NP_001191147.1:n.-421+3452G>A
XM_011538398.1:c.-421+931G>A	XP_011536700.1:n.-421+931G>A
NM_000620.5:c.-421+3452G>A MANE Select	NP_000611.1:n.-421+3452G>A
NM_001204218.2:c.-421+3452G>A	NP_001191147.1:n.-421+3452G>A