Canonical Allele Identifier: CA7150891

Gene: NPAS3

Linked Data

• dbSNP Id: rs748885578
• ExAC: 14:34269349 C / T
• gnomAD v2: 14-34269349-C-T
• gnomAD v3: 14-33800143-C-T
• gnomAD v4: 14-33800143-C-T
• MyVariant Identifiers: chr14:g.34269349C>T (hg19) ; chr14:g.33800143C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800143C>T , CM000676.2:g.33800143C>T	GRCh38
NC_000014.8:g.34269349C>T , CM000676.1:g.34269349C>T	GRCh37
NC_000014.7:g.33339100C>T	NCBI36
NG_013036.1:g.865891C>T
NG_013036.2:g.865891C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1836C>T MANE Select	ENSP00000348460.4:p.Ala612=
ENST00000551634.6:c.1845C>T	ENSP00000448373.2:p.Ala615=
ENST00000680362.1:c.1736C>T
ENST00000681323.1:c.793+2562C>T
ENST00000346562.6:c.1740C>T	ENSP00000319610.5:p.Ala580=
ENST00000356141.8:c.1836C>T	ENSP00000348460.4:p.Ala612=
ENST00000357798.9:c.1797C>T	ENSP00000350446.5:p.Ala599=
ENST00000548645.5:c.1746C>T	ENSP00000448916.1:p.Ala582=
ENST00000551492.5:c.1851C>T	ENSP00000450392.1:p.Ala617=
ENST00000551634.5:c.1758C>T	ENSP00000448373.1:p.Ala586=
NM_001164749.1:c.1836C>T	NP_001158221.1:p.Ala612=
NM_001165893.1:c.1746C>T	NP_001159365.1:p.Ala582=
NM_022123.2:c.1740C>T	NP_071406.1:p.Ala580=
NM_173159.2:c.1797C>T	NP_775182.1:p.Ala599=
XM_005267991.2:c.1857C>T	XP_005268048.1:p.Ala619=
XM_005267992.2:c.1851C>T	XP_005268049.1:p.Ala617=
XM_005267993.2:c.1797C>T	XP_005268050.1:p.Ala599=
XM_011537067.1:c.1887C>T	XP_011535369.1:p.Ala629=
XM_011537068.1:c.1878C>T	XP_011535370.1:p.Ala626=
XM_011537069.1:c.1848C>T	XP_011535371.1:p.Ala616=
XM_011537070.1:c.1791C>T	XP_011535372.1:p.Ala597=
XM_011537071.1:c.1758C>T	XP_011535373.1:p.Ala586=
XM_011537072.1:c.1737C>T	XP_011535374.1:p.Ala579=
XM_011537073.1:c.1530C>T	XP_011535375.1:p.Ala510=
XM_011537074.1:c.1530C>T	XP_011535376.1:p.Ala510=
XM_005267991.3:c.1944C>T	XP_005268048.2:p.Ala648=
XM_005267992.3:c.1938C>T	XP_005268049.2:p.Ala646=
XM_011537067.2:c.1887C>T	XP_011535369.1:p.Ala629=
XM_011537069.2:c.1935C>T	XP_011535371.2:p.Ala645=
XM_011537070.2:c.1791C>T	XP_011535372.1:p.Ala597=
XM_011537071.2:c.1845C>T	XP_011535373.2:p.Ala615=
XM_011537072.2:c.1737C>T	XP_011535374.1:p.Ala579=
XM_017021582.1:c.1995C>T	XP_016877071.1:p.Ala665=
XM_017021583.1:c.1986C>T	XP_016877072.1:p.Ala662=
XM_017021584.1:c.1905C>T	XP_016877073.1:p.Ala635=
XM_017021585.1:c.1854C>T	XP_016877074.1:p.Ala618=
XM_017021586.1:c.1530C>T	XP_016877075.1:p.Ala510=
XM_017021587.1:c.1530C>T	XP_016877076.1:p.Ala510=
XM_017021588.1:c.1530C>T	XP_016877077.1:p.Ala510=
NM_001164749.2:c.1836C>T MANE Select	NP_001158221.1:p.Ala612=
NM_001165893.2:c.1746C>T	NP_001159365.1:p.Ala582=
NM_022123.3:c.1740C>T	NP_071406.1:p.Ala580=
NM_173159.3:c.1797C>T	NP_775182.1:p.Ala599=
NM_001394988.1:c.1791C>T	NP_001381917.1:p.Ala597=
NM_001394989.1:c.1737C>T	NP_001381918.1:p.Ala579=