Canonical Allele Identifier: CA7150965

Gene: NPAS3

Linked Data

• ClinVar Variation Id: 768647
• ClinVar RCV Id: RCV000947561
• dbSNP Id: rs184441344
• ExAC: 14:34269769 G / A
• gnomAD v2: 14-34269769-G-A
• gnomAD v3: 14-33800563-G-A
• gnomAD v4: 14-33800563-G-A
• MyVariant Identifiers: chr14:g.34269769G>A (hg19) ; chr14:g.33800563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800563G>A , CM000676.2:g.33800563G>A	GRCh38
NC_000014.8:g.34269769G>A , CM000676.1:g.34269769G>A	GRCh37
NC_000014.7:g.33339520G>A	NCBI36
NG_013036.1:g.866311G>A
NG_013036.2:g.866311G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2256G>A MANE Select	ENSP00000348460.4:p.Ser752=
ENST00000551634.6:c.2265G>A	ENSP00000448373.2:p.Ser755=
ENST00000680362.1:c.2156G>A
ENST00000681323.1:c.793+2982G>A
ENST00000346562.6:c.2160G>A	ENSP00000319610.5:p.Ser720=
ENST00000356141.8:c.2256G>A	ENSP00000348460.4:p.Ser752=
ENST00000357798.9:c.2217G>A	ENSP00000350446.5:p.Ser739=
ENST00000548645.5:c.2166G>A	ENSP00000448916.1:p.Ser722=
ENST00000551492.5:c.2271G>A	ENSP00000450392.1:p.Ser757=
ENST00000551634.5:c.2178G>A	ENSP00000448373.1:p.Ser726=
NM_001164749.1:c.2256G>A	NP_001158221.1:p.Ser752=
NM_001165893.1:c.2166G>A	NP_001159365.1:p.Ser722=
NM_022123.2:c.2160G>A	NP_071406.1:p.Ser720=
NM_173159.2:c.2217G>A	NP_775182.1:p.Ser739=
XM_005267991.2:c.2277G>A	XP_005268048.1:p.Ser759=
XM_005267992.2:c.2271G>A	XP_005268049.1:p.Ser757=
XM_005267993.2:c.2217G>A	XP_005268050.1:p.Ser739=
XM_011537067.1:c.2307G>A	XP_011535369.1:p.Ser769=
XM_011537068.1:c.2298G>A	XP_011535370.1:p.Ser766=
XM_011537069.1:c.2268G>A	XP_011535371.1:p.Ser756=
XM_011537070.1:c.2211G>A	XP_011535372.1:p.Ser737=
XM_011537071.1:c.2178G>A	XP_011535373.1:p.Ser726=
XM_011537072.1:c.2157G>A	XP_011535374.1:p.Ser719=
XM_011537073.1:c.1950G>A	XP_011535375.1:p.Ser650=
XM_011537074.1:c.1950G>A	XP_011535376.1:p.Ser650=
XM_005267991.3:c.2364G>A	XP_005268048.2:p.Ser788=
XM_005267992.3:c.2358G>A	XP_005268049.2:p.Ser786=
XM_011537067.2:c.2307G>A	XP_011535369.1:p.Ser769=
XM_011537069.2:c.2355G>A	XP_011535371.2:p.Ser785=
XM_011537070.2:c.2211G>A	XP_011535372.1:p.Ser737=
XM_011537071.2:c.2265G>A	XP_011535373.2:p.Ser755=
XM_011537072.2:c.2157G>A	XP_011535374.1:p.Ser719=
XM_017021582.1:c.2415G>A	XP_016877071.1:p.Ser805=
XM_017021583.1:c.2406G>A	XP_016877072.1:p.Ser802=
XM_017021584.1:c.2325G>A	XP_016877073.1:p.Ser775=
XM_017021585.1:c.2274G>A	XP_016877074.1:p.Ser758=
XM_017021586.1:c.1950G>A	XP_016877075.1:p.Ser650=
XM_017021587.1:c.1950G>A	XP_016877076.1:p.Ser650=
XM_017021588.1:c.1950G>A	XP_016877077.1:p.Ser650=
NM_001164749.2:c.2256G>A MANE Select	NP_001158221.1:p.Ser752=
NM_001165893.2:c.2166G>A	NP_001159365.1:p.Ser722=
NM_022123.3:c.2160G>A	NP_071406.1:p.Ser720=
NM_173159.3:c.2217G>A	NP_775182.1:p.Ser739=
NM_001394988.1:c.2211G>A	NP_001381917.1:p.Ser737=
NM_001394989.1:c.2157G>A	NP_001381918.1:p.Ser719=