Canonical Allele Identifier: CA244252356

Gene: NOS1

Linked Data

• dbSNP Id: rs941723449
• gnomAD v3: 12-117339517-T-C
• gnomAD v4: 12-117339517-T-C
• MyVariant Identifiers: chr12:g.117777322T>C (hg19) ; chr12:g.117339517T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117339517T>C , CM000674.2:g.117339517T>C	GRCh38
NC_000012.11:g.117777322T>C , CM000674.1:g.117777322T>C	GRCh37
NC_000012.10:g.116261705T>C	NCBI36
NG_011991.2:g.27261A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317775.11:c.-420-8028A>G MANE Select	ENSP00000320758.6:n.-420-8028A>G
ENST00000317775.10:c.-420-8028A>G	ENSP00000320758.6:n.-420-8028A>G
ENST00000549189.1:n.471-8028A>G
ENST00000618760.4:c.-420-8028A>G	ENSP00000477999.1:n.-420-8028A>G
NM_000620.4:c.-420-8028A>G	NP_000611.1:n.-420-8028A>G
NM_001204218.1:c.-420-8028A>G	NP_001191147.1:n.-420-8028A>G
XM_011538398.1:c.-420-8028A>G	XP_011536700.1:n.-420-8028A>G
NM_000620.5:c.-420-8028A>G MANE Select	NP_000611.1:n.-420-8028A>G
NM_001204218.2:c.-420-8028A>G	NP_001191147.1:n.-420-8028A>G