Canonical Allele Identifier: CA1752467133

Gene: NOS3

Linked Data

• dbSNP Id: rs1802280209
• gnomAD v3: 7-150992711-G-GCTC
• gnomAD v4: 7-150992711-G-GCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150992714_150992716dup , CM000669.2:g.150992714_150992716dup	GRCh38
NC_000007.13:g.150689802_150689804dup , CM000669.1:g.150689802_150689804dup	GRCh37
NC_000007.12:g.150320735_150320737dup	NCBI36
NG_011992.1:g.6656_6658dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297494.8:c.-51-1039_-51-1037dup MANE Select	ENSP00000297494.3:n.-51-1039_-51-1037dup
ENST00000297494.7:c.-51-1039_-51-1037dup	ENSP00000297494.3:n.-51-1039_-51-1037dup
ENST00000461406.5:c.-149+1414_-149+1416dup	ENSP00000417143.1:n.-149+1414_-149+1416dup
NM_000603.4:c.-51-1039_-51-1037dup	NP_000594.2:n.-51-1039_-51-1037dup
NM_000603.5:c.-51-1039_-51-1037dup MANE Select	NP_000594.2:n.-51-1039_-51-1037dup