Canonical Allele Identifier: CA389413846

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269598G>C (hg19) ; chr14:g.33800392G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800392G>C , CM000676.2:g.33800392G>C	GRCh38
NC_000014.8:g.34269598G>C , CM000676.1:g.34269598G>C	GRCh37
NC_000014.7:g.33339349G>C	NCBI36
NG_013036.1:g.866140G>C
NG_013036.2:g.866140G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2085G>C MANE Select	ENSP00000348460.4:p.Gln695His
ENST00000551634.6:c.2094G>C	ENSP00000448373.2:p.Gln698His
ENST00000680362.1:c.1985G>C
ENST00000681323.1:c.793+2811G>C
ENST00000346562.6:c.1989G>C	ENSP00000319610.5:p.Gln663His
ENST00000356141.8:c.2085G>C	ENSP00000348460.4:p.Gln695His
ENST00000357798.9:c.2046G>C	ENSP00000350446.5:p.Gln682His
ENST00000548645.5:c.1995G>C	ENSP00000448916.1:p.Gln665His
ENST00000551492.5:c.2100G>C	ENSP00000450392.1:p.Gln700His
ENST00000551634.5:c.2007G>C	ENSP00000448373.1:p.Gln669His
NM_001164749.1:c.2085G>C	NP_001158221.1:p.Gln695His
NM_001165893.1:c.1995G>C	NP_001159365.1:p.Gln665His
NM_022123.2:c.1989G>C	NP_071406.1:p.Gln663His
NM_173159.2:c.2046G>C	NP_775182.1:p.Gln682His
XM_005267991.2:c.2106G>C	XP_005268048.1:p.Gln702His
XM_005267992.2:c.2100G>C	XP_005268049.1:p.Gln700His
XM_005267993.2:c.2046G>C	XP_005268050.1:p.Gln682His
XM_011537067.1:c.2136G>C	XP_011535369.1:p.Gln712His
XM_011537068.1:c.2127G>C	XP_011535370.1:p.Gln709His
XM_011537069.1:c.2097G>C	XP_011535371.1:p.Gln699His
XM_011537070.1:c.2040G>C	XP_011535372.1:p.Gln680His
XM_011537071.1:c.2007G>C	XP_011535373.1:p.Gln669His
XM_011537072.1:c.1986G>C	XP_011535374.1:p.Gln662His
XM_011537073.1:c.1779G>C	XP_011535375.1:p.Gln593His
XM_011537074.1:c.1779G>C	XP_011535376.1:p.Gln593His
XM_005267991.3:c.2193G>C	XP_005268048.2:p.Gln731His
XM_005267992.3:c.2187G>C	XP_005268049.2:p.Gln729His
XM_011537067.2:c.2136G>C	XP_011535369.1:p.Gln712His
XM_011537069.2:c.2184G>C	XP_011535371.2:p.Gln728His
XM_011537070.2:c.2040G>C	XP_011535372.1:p.Gln680His
XM_011537071.2:c.2094G>C	XP_011535373.2:p.Gln698His
XM_011537072.2:c.1986G>C	XP_011535374.1:p.Gln662His
XM_017021582.1:c.2244G>C	XP_016877071.1:p.Gln748His
XM_017021583.1:c.2235G>C	XP_016877072.1:p.Gln745His
XM_017021584.1:c.2154G>C	XP_016877073.1:p.Gln718His
XM_017021585.1:c.2103G>C	XP_016877074.1:p.Gln701His
XM_017021586.1:c.1779G>C	XP_016877075.1:p.Gln593His
XM_017021587.1:c.1779G>C	XP_016877076.1:p.Gln593His
XM_017021588.1:c.1779G>C	XP_016877077.1:p.Gln593His
NM_001164749.2:c.2085G>C MANE Select	NP_001158221.1:p.Gln695His
NM_001165893.2:c.1995G>C	NP_001159365.1:p.Gln665His
NM_022123.3:c.1989G>C	NP_071406.1:p.Gln663His
NM_173159.3:c.2046G>C	NP_775182.1:p.Gln682His
NM_001394988.1:c.2040G>C	NP_001381917.1:p.Gln680His
NM_001394989.1:c.1986G>C	NP_001381918.1:p.Gln662His