Canonical Allele Identifier: CA369858382

Gene: NOS3

Linked Data

• gnomAD v4: 7-151001940-T-C
• MyVariant Identifiers: chr7:g.150699028T>C (hg19) ; chr7:g.151001940T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151001940T>C , CM000669.2:g.151001940T>C	GRCh38
NC_000007.13:g.150699028T>C , CM000669.1:g.150699028T>C	GRCh37
NC_000007.12:g.150329961T>C	NCBI36
NG_011992.1:g.15882T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297494.8:c.1622T>C MANE Select	ENSP00000297494.3:p.Leu541Pro
ENST00000297494.7:c.1622T>C	ENSP00000297494.3:p.Leu541Pro
ENST00000460603.1:n.74T>C
ENST00000461406.5:c.1004T>C	ENSP00000417143.1:p.Leu335Pro
ENST00000467517.1:c.1622T>C	ENSP00000420551.1:p.Leu541Pro
ENST00000484524.5:c.1622T>C	ENSP00000420215.1:p.Leu541Pro
NM_000603.4:c.1622T>C	NP_000594.2:p.Leu541Pro
NM_001160109.1:c.1622T>C	NP_001153581.1:p.Leu541Pro
NM_001160110.1:c.1622T>C	NP_001153582.1:p.Leu541Pro
NM_001160111.1:c.1622T>C	NP_001153583.1:p.Leu541Pro
XM_006716002.2:c.1622T>C	XP_006716065.1:p.Leu541Pro
NM_000603.5:c.1622T>C MANE Select	NP_000594.2:p.Leu541Pro
NM_001160109.2:c.1622T>C	NP_001153581.1:p.Leu541Pro