Canonical Allele Identifier: CA2685608001

Gene: NOS3

Linked Data

• gnomAD v4: 7-151003822-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151003822T>C , CM000669.2:g.151003822T>C	GRCh38
NC_000007.13:g.150700910T>C , CM000669.1:g.150700910T>C	GRCh37
NC_000007.12:g.150331843T>C	NCBI36
NG_011992.1:g.17764T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297494.8:c.1752+1518T>C MANE Select	ENSP00000297494.3:n.1752+1518T>C
ENST00000297494.7:c.1752+1518T>C	ENSP00000297494.3:n.1752+1518T>C
ENST00000461406.5:c.1134+1518T>C	ENSP00000417143.1:n.1134+1518T>C
ENST00000467517.1:c.2264T>C	ENSP00000420551.1:n.2264T>C
ENST00000484524.5:c.2424T>C	ENSP00000420215.1:n.2424T>C
NM_000603.4:c.1752+1518T>C	NP_000594.2:n.1752+1518T>C
NM_001160109.1:c.1918T>C	NP_001153581.1:n.1918T>C
NM_001160110.1:c.2264T>C	NP_001153582.1:n.2264T>C
NM_001160111.1:c.2424T>C	NP_001153583.1:n.2424T>C
XM_006716002.2:c.1752+1518T>C	XP_006716065.1:n.1752+1518T>C
NM_000603.5:c.1752+1518T>C MANE Select	NP_000594.2:n.1752+1518T>C
NM_001160109.2:c.*127T>C	NP_001153581.1:n.*127T>C