Canonical Allele Identifier: CA7150879

Gene: NPAS3

Linked Data

• dbSNP Id: rs760726484
• ExAC: 14:34269304 C / T
• gnomAD v2: 14-34269304-C-T
• gnomAD v4: 14-33800098-C-T
• MyVariant Identifiers: chr14:g.34269304C>T (hg19) ; chr14:g.33800098C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800098C>T , CM000676.2:g.33800098C>T	GRCh38
NC_000014.8:g.34269304C>T , CM000676.1:g.34269304C>T	GRCh37
NC_000014.7:g.33339055C>T	NCBI36
NG_013036.1:g.865846C>T
NG_013036.2:g.865846C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1791C>T MANE Select	ENSP00000348460.4:p.His597=
ENST00000551634.6:c.1800C>T	ENSP00000448373.2:p.His600=
ENST00000680362.1:c.1691C>T
ENST00000681323.1:c.793+2517C>T
ENST00000346562.6:c.1695C>T	ENSP00000319610.5:p.His565=
ENST00000356141.8:c.1791C>T	ENSP00000348460.4:p.His597=
ENST00000357798.9:c.1752C>T	ENSP00000350446.5:p.His584=
ENST00000548645.5:c.1701C>T	ENSP00000448916.1:p.His567=
ENST00000551492.5:c.1806C>T	ENSP00000450392.1:p.His602=
ENST00000551634.5:c.1713C>T	ENSP00000448373.1:p.His571=
NM_001164749.1:c.1791C>T	NP_001158221.1:p.His597=
NM_001165893.1:c.1701C>T	NP_001159365.1:p.His567=
NM_022123.2:c.1695C>T	NP_071406.1:p.His565=
NM_173159.2:c.1752C>T	NP_775182.1:p.His584=
XM_005267991.2:c.1812C>T	XP_005268048.1:p.His604=
XM_005267992.2:c.1806C>T	XP_005268049.1:p.His602=
XM_005267993.2:c.1752C>T	XP_005268050.1:p.His584=
XM_011537067.1:c.1842C>T	XP_011535369.1:p.His614=
XM_011537068.1:c.1833C>T	XP_011535370.1:p.His611=
XM_011537069.1:c.1803C>T	XP_011535371.1:p.His601=
XM_011537070.1:c.1746C>T	XP_011535372.1:p.His582=
XM_011537071.1:c.1713C>T	XP_011535373.1:p.His571=
XM_011537072.1:c.1692C>T	XP_011535374.1:p.His564=
XM_011537073.1:c.1485C>T	XP_011535375.1:p.His495=
XM_011537074.1:c.1485C>T	XP_011535376.1:p.His495=
XM_005267991.3:c.1899C>T	XP_005268048.2:p.His633=
XM_005267992.3:c.1893C>T	XP_005268049.2:p.His631=
XM_011537067.2:c.1842C>T	XP_011535369.1:p.His614=
XM_011537069.2:c.1890C>T	XP_011535371.2:p.His630=
XM_011537070.2:c.1746C>T	XP_011535372.1:p.His582=
XM_011537071.2:c.1800C>T	XP_011535373.2:p.His600=
XM_011537072.2:c.1692C>T	XP_011535374.1:p.His564=
XM_017021582.1:c.1950C>T	XP_016877071.1:p.His650=
XM_017021583.1:c.1941C>T	XP_016877072.1:p.His647=
XM_017021584.1:c.1860C>T	XP_016877073.1:p.His620=
XM_017021585.1:c.1809C>T	XP_016877074.1:p.His603=
XM_017021586.1:c.1485C>T	XP_016877075.1:p.His495=
XM_017021587.1:c.1485C>T	XP_016877076.1:p.His495=
XM_017021588.1:c.1485C>T	XP_016877077.1:p.His495=
NM_001164749.2:c.1791C>T MANE Select	NP_001158221.1:p.His597=
NM_001165893.2:c.1701C>T	NP_001159365.1:p.His567=
NM_022123.3:c.1695C>T	NP_071406.1:p.His565=
NM_173159.3:c.1752C>T	NP_775182.1:p.His584=
NM_001394988.1:c.1746C>T	NP_001381917.1:p.His582=
NM_001394989.1:c.1692C>T	NP_001381918.1:p.His564=