Canonical Allele Identifier: CA579075650

Gene: NOS3

Linked Data

• dbSNP Id: rs200294802
• gnomAD v2: 7-150708095-G-T
• gnomAD v4: 7-151011007-G-T
• MyVariant Identifiers: chr7:g.150708095G>T (hg19) ; chr7:g.151011007G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151011007G>T , CM000669.2:g.151011007G>T	GRCh38
NC_000007.13:g.150708095G>T , CM000669.1:g.150708095G>T	GRCh37
NC_000007.12:g.150339028G>T	NCBI36
NG_011992.1:g.24949G>T
NG_030317.1:g.18493C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297494.8:c.2984+21G>T MANE Select	ENSP00000297494.3:n.2984+21G>T
ENST00000297494.7:c.2984+21G>T	ENSP00000297494.3:n.2984+21G>T
ENST00000461406.5:c.2366+21G>T	ENSP00000417143.1:n.2366+21G>T
ENST00000468293.5:n.467+21G>T
ENST00000475017.1:c.865+21G>T
ENST00000477227.1:n.363+21G>T
NM_000603.4:c.2984+21G>T	NP_000594.2:n.2984+21G>T
NM_000603.5:c.2984+21G>T MANE Select	NP_000594.2:n.2984+21G>T