Canonical Allele Identifier: CA389412683

Gene: NPAS3

Linked Data

• ClinVar Variation Id: 2486559
• ClinVar RCV Id: RCV004275179
• dbSNP Id: rs767887544
• gnomAD v2: 14-34269341-G-T
• gnomAD v3: 14-33800135-G-T
• gnomAD v4: 14-33800135-G-T
• MyVariant Identifiers: chr14:g.34269341G>T (hg19) ; chr14:g.33800135G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800135G>T , CM000676.2:g.33800135G>T	GRCh38
NC_000014.8:g.34269341G>T , CM000676.1:g.34269341G>T	GRCh37
NC_000014.7:g.33339092G>T	NCBI36
NG_013036.1:g.865883G>T
NG_013036.2:g.865883G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1828G>T MANE Select	ENSP00000348460.4:p.Gly610Cys
ENST00000551634.6:c.1837G>T	ENSP00000448373.2:p.Gly613Cys
ENST00000680362.1:c.1728G>T
ENST00000681323.1:c.793+2554G>T
ENST00000346562.6:c.1732G>T	ENSP00000319610.5:p.Gly578Cys
ENST00000356141.8:c.1828G>T	ENSP00000348460.4:p.Gly610Cys
ENST00000357798.9:c.1789G>T	ENSP00000350446.5:p.Gly597Cys
ENST00000548645.5:c.1738G>T	ENSP00000448916.1:p.Gly580Cys
ENST00000551492.5:c.1843G>T	ENSP00000450392.1:p.Gly615Cys
ENST00000551634.5:c.1750G>T	ENSP00000448373.1:p.Gly584Cys
NM_001164749.1:c.1828G>T	NP_001158221.1:p.Gly610Cys
NM_001165893.1:c.1738G>T	NP_001159365.1:p.Gly580Cys
NM_022123.2:c.1732G>T	NP_071406.1:p.Gly578Cys
NM_173159.2:c.1789G>T	NP_775182.1:p.Gly597Cys
XM_005267991.2:c.1849G>T	XP_005268048.1:p.Gly617Cys
XM_005267992.2:c.1843G>T	XP_005268049.1:p.Gly615Cys
XM_005267993.2:c.1789G>T	XP_005268050.1:p.Gly597Cys
XM_011537067.1:c.1879G>T	XP_011535369.1:p.Gly627Cys
XM_011537068.1:c.1870G>T	XP_011535370.1:p.Gly624Cys
XM_011537069.1:c.1840G>T	XP_011535371.1:p.Gly614Cys
XM_011537070.1:c.1783G>T	XP_011535372.1:p.Gly595Cys
XM_011537071.1:c.1750G>T	XP_011535373.1:p.Gly584Cys
XM_011537072.1:c.1729G>T	XP_011535374.1:p.Gly577Cys
XM_011537073.1:c.1522G>T	XP_011535375.1:p.Gly508Cys
XM_011537074.1:c.1522G>T	XP_011535376.1:p.Gly508Cys
XM_005267991.3:c.1936G>T	XP_005268048.2:p.Gly646Cys
XM_005267992.3:c.1930G>T	XP_005268049.2:p.Gly644Cys
XM_011537067.2:c.1879G>T	XP_011535369.1:p.Gly627Cys
XM_011537069.2:c.1927G>T	XP_011535371.2:p.Gly643Cys
XM_011537070.2:c.1783G>T	XP_011535372.1:p.Gly595Cys
XM_011537071.2:c.1837G>T	XP_011535373.2:p.Gly613Cys
XM_011537072.2:c.1729G>T	XP_011535374.1:p.Gly577Cys
XM_017021582.1:c.1987G>T	XP_016877071.1:p.Gly663Cys
XM_017021583.1:c.1978G>T	XP_016877072.1:p.Gly660Cys
XM_017021584.1:c.1897G>T	XP_016877073.1:p.Gly633Cys
XM_017021585.1:c.1846G>T	XP_016877074.1:p.Gly616Cys
XM_017021586.1:c.1522G>T	XP_016877075.1:p.Gly508Cys
XM_017021587.1:c.1522G>T	XP_016877076.1:p.Gly508Cys
XM_017021588.1:c.1522G>T	XP_016877077.1:p.Gly508Cys
NM_001164749.2:c.1828G>T MANE Select	NP_001158221.1:p.Gly610Cys
NM_001165893.2:c.1738G>T	NP_001159365.1:p.Gly580Cys
NM_022123.3:c.1732G>T	NP_071406.1:p.Gly578Cys
NM_173159.3:c.1789G>T	NP_775182.1:p.Gly597Cys
NM_001394988.1:c.1783G>T	NP_001381917.1:p.Gly595Cys
NM_001394989.1:c.1729G>T	NP_001381918.1:p.Gly577Cys