Canonical Allele Identifier: CA486092967

Gene: NPAS3

Linked Data

• dbSNP Id: rs1198850048
• gnomAD v2: 14-34269457-C-A
• gnomAD v4: 14-33800251-C-A
• MyVariant Identifiers: chr14:g.34269457C>A (hg19) ; chr14:g.33800251C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800251C>A , CM000676.2:g.33800251C>A	GRCh38
NC_000014.8:g.34269457C>A , CM000676.1:g.34269457C>A	GRCh37
NC_000014.7:g.33339208C>A	NCBI36
NG_013036.1:g.865999C>A
NG_013036.2:g.865999C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1944C>A MANE Select	ENSP00000348460.4:p.Ile648=
ENST00000551634.6:c.1953C>A	ENSP00000448373.2:p.Ile651=
ENST00000680362.1:c.1844C>A
ENST00000681323.1:c.793+2670C>A
ENST00000346562.6:c.1848C>A	ENSP00000319610.5:p.Ile616=
ENST00000356141.8:c.1944C>A	ENSP00000348460.4:p.Ile648=
ENST00000357798.9:c.1905C>A	ENSP00000350446.5:p.Ile635=
ENST00000548645.5:c.1854C>A	ENSP00000448916.1:p.Ile618=
ENST00000551492.5:c.1959C>A	ENSP00000450392.1:p.Ile653=
ENST00000551634.5:c.1866C>A	ENSP00000448373.1:p.Ile622=
NM_001164749.1:c.1944C>A	NP_001158221.1:p.Ile648=
NM_001165893.1:c.1854C>A	NP_001159365.1:p.Ile618=
NM_022123.2:c.1848C>A	NP_071406.1:p.Ile616=
NM_173159.2:c.1905C>A	NP_775182.1:p.Ile635=
XM_005267991.2:c.1965C>A	XP_005268048.1:p.Ile655=
XM_005267992.2:c.1959C>A	XP_005268049.1:p.Ile653=
XM_005267993.2:c.1905C>A	XP_005268050.1:p.Ile635=
XM_011537067.1:c.1995C>A	XP_011535369.1:p.Ile665=
XM_011537068.1:c.1986C>A	XP_011535370.1:p.Ile662=
XM_011537069.1:c.1956C>A	XP_011535371.1:p.Ile652=
XM_011537070.1:c.1899C>A	XP_011535372.1:p.Ile633=
XM_011537071.1:c.1866C>A	XP_011535373.1:p.Ile622=
XM_011537072.1:c.1845C>A	XP_011535374.1:p.Ile615=
XM_011537073.1:c.1638C>A	XP_011535375.1:p.Ile546=
XM_011537074.1:c.1638C>A	XP_011535376.1:p.Ile546=
XM_005267991.3:c.2052C>A	XP_005268048.2:p.Ile684=
XM_005267992.3:c.2046C>A	XP_005268049.2:p.Ile682=
XM_011537067.2:c.1995C>A	XP_011535369.1:p.Ile665=
XM_011537069.2:c.2043C>A	XP_011535371.2:p.Ile681=
XM_011537070.2:c.1899C>A	XP_011535372.1:p.Ile633=
XM_011537071.2:c.1953C>A	XP_011535373.2:p.Ile651=
XM_011537072.2:c.1845C>A	XP_011535374.1:p.Ile615=
XM_017021582.1:c.2103C>A	XP_016877071.1:p.Ile701=
XM_017021583.1:c.2094C>A	XP_016877072.1:p.Ile698=
XM_017021584.1:c.2013C>A	XP_016877073.1:p.Ile671=
XM_017021585.1:c.1962C>A	XP_016877074.1:p.Ile654=
XM_017021586.1:c.1638C>A	XP_016877075.1:p.Ile546=
XM_017021587.1:c.1638C>A	XP_016877076.1:p.Ile546=
XM_017021588.1:c.1638C>A	XP_016877077.1:p.Ile546=
NM_001164749.2:c.1944C>A MANE Select	NP_001158221.1:p.Ile648=
NM_001165893.2:c.1854C>A	NP_001159365.1:p.Ile618=
NM_022123.3:c.1848C>A	NP_071406.1:p.Ile616=
NM_173159.3:c.1905C>A	NP_775182.1:p.Ile635=
NM_001394988.1:c.1899C>A	NP_001381917.1:p.Ile633=
NM_001394989.1:c.1845C>A	NP_001381918.1:p.Ile615=