Canonical Allele Identifier: CA244260240

Gene: NOS1

Linked Data

• dbSNP Id: rs75782568
• gnomAD v2: 12-117795800-C-G
• gnomAD v3: 12-117357995-C-G
• gnomAD v4: 12-117357995-C-G
• MyVariant Identifiers: chr12:g.117795800C>G (hg19) ; chr12:g.117357995C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117357995C>G , CM000674.2:g.117357995C>G	GRCh38
NC_000012.11:g.117795800C>G , CM000674.1:g.117795800C>G	GRCh37
NC_000012.10:g.116280183C>G	NCBI36
NG_011991.2:g.8783G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317775.11:c.-421+3517G>C MANE Select	ENSP00000320758.6:n.-421+3517G>C
ENST00000317775.10:c.-421+3517G>C	ENSP00000320758.6:n.-421+3517G>C
ENST00000477584.1:n.118+3517G>C
ENST00000549189.1:n.471-26506G>C
ENST00000618760.4:c.-421+3517G>C	ENSP00000477999.1:n.-421+3517G>C
NM_000620.4:c.-421+3517G>C	NP_000611.1:n.-421+3517G>C
NM_001204218.1:c.-421+3517G>C	NP_001191147.1:n.-421+3517G>C
XM_011538398.1:c.-421+996G>C	XP_011536700.1:n.-421+996G>C
NM_000620.5:c.-421+3517G>C MANE Select	NP_000611.1:n.-421+3517G>C
NM_001204218.2:c.-421+3517G>C	NP_001191147.1:n.-421+3517G>C