Canonical Allele Identifier: CA835223838
Gene: NOS3 HGNC NCBI

Linked Data

dbSNP Id: rs1260511282
gnomAD v3: 7-150992461-T-C
gnomAD v4: 7-150992461-T-C
MyVariant Identifiers: chr7:g.150689549T>C (hg19) chr7:g.150992461T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150992461T>C , CM000669.2:g.150992461T>C GRCh38
NC_000007.13:g.150689549T>C , CM000669.1:g.150689549T>C GRCh37
NC_000007.12:g.150320482T>C NCBI36
NG_011992.1:g.6403T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297494.8:c.-52+1161T>C MANE Select ENSP00000297494.3:n.-52+1161T>C
ENST00000297494.7:c.-52+1161T>C ENSP00000297494.3:n.-52+1161T>C
ENST00000461406.5:c.-149+1161T>C ENSP00000417143.1:n.-149+1161T>C
NM_000603.4:c.-52+1161T>C NP_000594.2:n.-52+1161T>C
NM_000603.5:c.-52+1161T>C MANE Select NP_000594.2:n.-52+1161T>C
Search 100 bp 5'
Search 100 bp 3'