Canonical Allele Identifier: CA4566774

Gene: NOS3

Linked Data

• dbSNP Id: rs142721517
• ExAC: 7:150696045 G / C
• gnomAD v2: 7-150696045-G-C
• gnomAD v3: 7-150998957-G-C
• gnomAD v4: 7-150998957-G-C
• MyVariant Identifiers: chr7:g.150696045G>C (hg19) ; chr7:g.150998957G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150998957G>C , CM000669.2:g.150998957G>C	GRCh38
NC_000007.13:g.150696045G>C , CM000669.1:g.150696045G>C	GRCh37
NC_000007.12:g.150326978G>C	NCBI36
NG_011992.1:g.12899G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297494.8:c.828G>C MANE Select	ENSP00000297494.3:p.Gln276His
ENST00000297494.7:c.828G>C	ENSP00000297494.3:p.Gln276His
ENST00000461406.5:c.210G>C	ENSP00000417143.1:p.Gln70His
ENST00000467517.1:c.828G>C	ENSP00000420551.1:p.Gln276His
ENST00000484524.5:c.828G>C	ENSP00000420215.1:p.Gln276His
NM_000603.4:c.828G>C	NP_000594.2:p.Gln276His
NM_001160109.1:c.828G>C	NP_001153581.1:p.Gln276His
NM_001160110.1:c.828G>C	NP_001153582.1:p.Gln276His
NM_001160111.1:c.828G>C	NP_001153583.1:p.Gln276His
XM_006716002.2:c.828G>C	XP_006716065.1:p.Gln276His
NM_000603.5:c.828G>C MANE Select	NP_000594.2:p.Gln276His
NM_001160109.2:c.828G>C	NP_001153581.1:p.Gln276His