Canonical Allele Identifier: CA7150906

Gene: NPAS3

Linked Data

• dbSNP Id: rs756566026
• ExAC: 14:34269417 G / A
• gnomAD v2: 14-34269417-G-A
• gnomAD v3: 14-33800211-G-A
• gnomAD v4: 14-33800211-G-A
• COSMIC: COSM4707739 ; COSM4707740 ; COSM4707741
• MyVariant Identifiers: chr14:g.34269417G>A (hg19) ; chr14:g.33800211G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800211G>A , CM000676.2:g.33800211G>A	GRCh38
NC_000014.8:g.34269417G>A , CM000676.1:g.34269417G>A	GRCh37
NC_000014.7:g.33339168G>A	NCBI36
NG_013036.1:g.865959G>A
NG_013036.2:g.865959G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1904G>A MANE Select	ENSP00000348460.4:p.Arg635Gln
ENST00000551634.6:c.1913G>A	ENSP00000448373.2:p.Arg638Gln
ENST00000680362.1:c.1804G>A
ENST00000681323.1:c.793+2630G>A
ENST00000346562.6:c.1808G>A	ENSP00000319610.5:p.Arg603Gln
ENST00000356141.8:c.1904G>A	ENSP00000348460.4:p.Arg635Gln
ENST00000357798.9:c.1865G>A	ENSP00000350446.5:p.Arg622Gln
ENST00000548645.5:c.1814G>A	ENSP00000448916.1:p.Arg605Gln
ENST00000551492.5:c.1919G>A	ENSP00000450392.1:p.Arg640Gln
ENST00000551634.5:c.1826G>A	ENSP00000448373.1:p.Arg609Gln
NM_001164749.1:c.1904G>A	NP_001158221.1:p.Arg635Gln
NM_001165893.1:c.1814G>A	NP_001159365.1:p.Arg605Gln
NM_022123.2:c.1808G>A	NP_071406.1:p.Arg603Gln
NM_173159.2:c.1865G>A	NP_775182.1:p.Arg622Gln
XM_005267991.2:c.1925G>A	XP_005268048.1:p.Arg642Gln
XM_005267992.2:c.1919G>A	XP_005268049.1:p.Arg640Gln
XM_005267993.2:c.1865G>A	XP_005268050.1:p.Arg622Gln
XM_011537067.1:c.1955G>A	XP_011535369.1:p.Arg652Gln
XM_011537068.1:c.1946G>A	XP_011535370.1:p.Arg649Gln
XM_011537069.1:c.1916G>A	XP_011535371.1:p.Arg639Gln
XM_011537070.1:c.1859G>A	XP_011535372.1:p.Arg620Gln
XM_011537071.1:c.1826G>A	XP_011535373.1:p.Arg609Gln
XM_011537072.1:c.1805G>A	XP_011535374.1:p.Arg602Gln
XM_011537073.1:c.1598G>A	XP_011535375.1:p.Arg533Gln
XM_011537074.1:c.1598G>A	XP_011535376.1:p.Arg533Gln
XM_005267991.3:c.2012G>A	XP_005268048.2:p.Arg671Gln
XM_005267992.3:c.2006G>A	XP_005268049.2:p.Arg669Gln
XM_011537067.2:c.1955G>A	XP_011535369.1:p.Arg652Gln
XM_011537069.2:c.2003G>A	XP_011535371.2:p.Arg668Gln
XM_011537070.2:c.1859G>A	XP_011535372.1:p.Arg620Gln
XM_011537071.2:c.1913G>A	XP_011535373.2:p.Arg638Gln
XM_011537072.2:c.1805G>A	XP_011535374.1:p.Arg602Gln
XM_017021582.1:c.2063G>A	XP_016877071.1:p.Arg688Gln
XM_017021583.1:c.2054G>A	XP_016877072.1:p.Arg685Gln
XM_017021584.1:c.1973G>A	XP_016877073.1:p.Arg658Gln
XM_017021585.1:c.1922G>A	XP_016877074.1:p.Arg641Gln
XM_017021586.1:c.1598G>A	XP_016877075.1:p.Arg533Gln
XM_017021587.1:c.1598G>A	XP_016877076.1:p.Arg533Gln
XM_017021588.1:c.1598G>A	XP_016877077.1:p.Arg533Gln
NM_001164749.2:c.1904G>A MANE Select	NP_001158221.1:p.Arg635Gln
NM_001165893.2:c.1814G>A	NP_001159365.1:p.Arg605Gln
NM_022123.3:c.1808G>A	NP_071406.1:p.Arg603Gln
NM_173159.3:c.1865G>A	NP_775182.1:p.Arg622Gln
NM_001394988.1:c.1859G>A	NP_001381917.1:p.Arg620Gln
NM_001394989.1:c.1805G>A	NP_001381918.1:p.Arg602Gln