Canonical Allele Identifier: CA389413517

Gene: NPAS3

Linked Data

• dbSNP Id: rs761032291
• gnomAD v3: 14-33800321-G-C
• gnomAD v4: 14-33800321-G-C
• COSMIC: COSM4943124 ; COSM4943125 ; COSM4943126
• MyVariant Identifiers: chr14:g.34269527G>C (hg19) ; chr14:g.33800321G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800321G>C , CM000676.2:g.33800321G>C	GRCh38
NC_000014.8:g.34269527G>C , CM000676.1:g.34269527G>C	GRCh37
NC_000014.7:g.33339278G>C	NCBI36
NG_013036.1:g.866069G>C
NG_013036.2:g.866069G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2014G>C MANE Select	ENSP00000348460.4:p.Glu672Gln
ENST00000551634.6:c.2023G>C	ENSP00000448373.2:p.Glu675Gln
ENST00000680362.1:c.1914G>C
ENST00000681323.1:c.793+2740G>C
ENST00000346562.6:c.1918G>C	ENSP00000319610.5:p.Glu640Gln
ENST00000356141.8:c.2014G>C	ENSP00000348460.4:p.Glu672Gln
ENST00000357798.9:c.1975G>C	ENSP00000350446.5:p.Glu659Gln
ENST00000548645.5:c.1924G>C	ENSP00000448916.1:p.Glu642Gln
ENST00000551492.5:c.2029G>C	ENSP00000450392.1:p.Glu677Gln
ENST00000551634.5:c.1936G>C	ENSP00000448373.1:p.Glu646Gln
NM_001164749.1:c.2014G>C	NP_001158221.1:p.Glu672Gln
NM_001165893.1:c.1924G>C	NP_001159365.1:p.Glu642Gln
NM_022123.2:c.1918G>C	NP_071406.1:p.Glu640Gln
NM_173159.2:c.1975G>C	NP_775182.1:p.Glu659Gln
XM_005267991.2:c.2035G>C	XP_005268048.1:p.Glu679Gln
XM_005267992.2:c.2029G>C	XP_005268049.1:p.Glu677Gln
XM_005267993.2:c.1975G>C	XP_005268050.1:p.Glu659Gln
XM_011537067.1:c.2065G>C	XP_011535369.1:p.Glu689Gln
XM_011537068.1:c.2056G>C	XP_011535370.1:p.Glu686Gln
XM_011537069.1:c.2026G>C	XP_011535371.1:p.Glu676Gln
XM_011537070.1:c.1969G>C	XP_011535372.1:p.Glu657Gln
XM_011537071.1:c.1936G>C	XP_011535373.1:p.Glu646Gln
XM_011537072.1:c.1915G>C	XP_011535374.1:p.Glu639Gln
XM_011537073.1:c.1708G>C	XP_011535375.1:p.Glu570Gln
XM_011537074.1:c.1708G>C	XP_011535376.1:p.Glu570Gln
XM_005267991.3:c.2122G>C	XP_005268048.2:p.Glu708Gln
XM_005267992.3:c.2116G>C	XP_005268049.2:p.Glu706Gln
XM_011537067.2:c.2065G>C	XP_011535369.1:p.Glu689Gln
XM_011537069.2:c.2113G>C	XP_011535371.2:p.Glu705Gln
XM_011537070.2:c.1969G>C	XP_011535372.1:p.Glu657Gln
XM_011537071.2:c.2023G>C	XP_011535373.2:p.Glu675Gln
XM_011537072.2:c.1915G>C	XP_011535374.1:p.Glu639Gln
XM_017021582.1:c.2173G>C	XP_016877071.1:p.Glu725Gln
XM_017021583.1:c.2164G>C	XP_016877072.1:p.Glu722Gln
XM_017021584.1:c.2083G>C	XP_016877073.1:p.Glu695Gln
XM_017021585.1:c.2032G>C	XP_016877074.1:p.Glu678Gln
XM_017021586.1:c.1708G>C	XP_016877075.1:p.Glu570Gln
XM_017021587.1:c.1708G>C	XP_016877076.1:p.Glu570Gln
XM_017021588.1:c.1708G>C	XP_016877077.1:p.Glu570Gln
NM_001164749.2:c.2014G>C MANE Select	NP_001158221.1:p.Glu672Gln
NM_001165893.2:c.1924G>C	NP_001159365.1:p.Glu642Gln
NM_022123.3:c.1918G>C	NP_071406.1:p.Glu640Gln
NM_173159.3:c.1975G>C	NP_775182.1:p.Glu659Gln
NM_001394988.1:c.1969G>C	NP_001381917.1:p.Glu657Gln
NM_001394989.1:c.1915G>C	NP_001381918.1:p.Glu639Gln