Canonical Allele Identifier: CA835226718

Gene: NOS3

Linked Data

• dbSNP Id: rs1309136386
• gnomAD v3: 7-151003873-T-C
• gnomAD v4: 7-151003873-T-C
• MyVariant Identifiers: chr7:g.150700961T>C (hg19) ; chr7:g.151003873T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151003873T>C , CM000669.2:g.151003873T>C	GRCh38
NC_000007.13:g.150700961T>C , CM000669.1:g.150700961T>C	GRCh37
NC_000007.12:g.150331894T>C	NCBI36
NG_011992.1:g.17815T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297494.8:c.1752+1569T>C MANE Select	ENSP00000297494.3:n.1752+1569T>C
ENST00000297494.7:c.1752+1569T>C	ENSP00000297494.3:n.1752+1569T>C
ENST00000461406.5:c.1134+1569T>C	ENSP00000417143.1:n.1134+1569T>C
ENST00000467517.1:c.2315T>C	ENSP00000420551.1:n.2315T>C
ENST00000484524.5:c.2475T>C	ENSP00000420215.1:n.2475T>C
NM_000603.4:c.1752+1569T>C	NP_000594.2:n.1752+1569T>C
NM_001160109.1:c.1969T>C	NP_001153581.1:n.1969T>C
NM_001160110.1:c.2315T>C	NP_001153582.1:n.2315T>C
NM_001160111.1:c.2475T>C	NP_001153583.1:n.2475T>C
XM_006716002.2:c.1752+1569T>C	XP_006716065.1:n.1752+1569T>C
NM_000603.5:c.1752+1569T>C MANE Select	NP_000594.2:n.1752+1569T>C
NM_001160109.2:c.*178T>C	NP_001153581.1:n.*178T>C