Canonical Allele Identifier: CA389414345

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800584-C-G
• MyVariant Identifiers: chr14:g.34269790C>G (hg19) ; chr14:g.33800584C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800584C>G , CM000676.2:g.33800584C>G	GRCh38
NC_000014.8:g.34269790C>G , CM000676.1:g.34269790C>G	GRCh37
NC_000014.7:g.33339541C>G	NCBI36
NG_013036.1:g.866332C>G
NG_013036.2:g.866332C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2277C>G MANE Select	ENSP00000348460.4:p.His759Gln
ENST00000551634.6:c.2286C>G	ENSP00000448373.2:p.His762Gln
ENST00000680362.1:c.2177C>G
ENST00000681323.1:c.793+3003C>G
ENST00000346562.6:c.2181C>G	ENSP00000319610.5:p.His727Gln
ENST00000356141.8:c.2277C>G	ENSP00000348460.4:p.His759Gln
ENST00000357798.9:c.2238C>G	ENSP00000350446.5:p.His746Gln
ENST00000548645.5:c.2187C>G	ENSP00000448916.1:p.His729Gln
ENST00000551492.5:c.2292C>G	ENSP00000450392.1:p.His764Gln
ENST00000551634.5:c.2199C>G	ENSP00000448373.1:p.His733Gln
NM_001164749.1:c.2277C>G	NP_001158221.1:p.His759Gln
NM_001165893.1:c.2187C>G	NP_001159365.1:p.His729Gln
NM_022123.2:c.2181C>G	NP_071406.1:p.His727Gln
NM_173159.2:c.2238C>G	NP_775182.1:p.His746Gln
XM_005267991.2:c.2298C>G	XP_005268048.1:p.His766Gln
XM_005267992.2:c.2292C>G	XP_005268049.1:p.His764Gln
XM_005267993.2:c.2238C>G	XP_005268050.1:p.His746Gln
XM_011537067.1:c.2328C>G	XP_011535369.1:p.His776Gln
XM_011537068.1:c.2319C>G	XP_011535370.1:p.His773Gln
XM_011537069.1:c.2289C>G	XP_011535371.1:p.His763Gln
XM_011537070.1:c.2232C>G	XP_011535372.1:p.His744Gln
XM_011537071.1:c.2199C>G	XP_011535373.1:p.His733Gln
XM_011537072.1:c.2178C>G	XP_011535374.1:p.His726Gln
XM_011537073.1:c.1971C>G	XP_011535375.1:p.His657Gln
XM_011537074.1:c.1971C>G	XP_011535376.1:p.His657Gln
XM_005267991.3:c.2385C>G	XP_005268048.2:p.His795Gln
XM_005267992.3:c.2379C>G	XP_005268049.2:p.His793Gln
XM_011537067.2:c.2328C>G	XP_011535369.1:p.His776Gln
XM_011537069.2:c.2376C>G	XP_011535371.2:p.His792Gln
XM_011537070.2:c.2232C>G	XP_011535372.1:p.His744Gln
XM_011537071.2:c.2286C>G	XP_011535373.2:p.His762Gln
XM_011537072.2:c.2178C>G	XP_011535374.1:p.His726Gln
XM_017021582.1:c.2436C>G	XP_016877071.1:p.His812Gln
XM_017021583.1:c.2427C>G	XP_016877072.1:p.His809Gln
XM_017021584.1:c.2346C>G	XP_016877073.1:p.His782Gln
XM_017021585.1:c.2295C>G	XP_016877074.1:p.His765Gln
XM_017021586.1:c.1971C>G	XP_016877075.1:p.His657Gln
XM_017021587.1:c.1971C>G	XP_016877076.1:p.His657Gln
XM_017021588.1:c.1971C>G	XP_016877077.1:p.His657Gln
NM_001164749.2:c.2277C>G MANE Select	NP_001158221.1:p.His759Gln
NM_001165893.2:c.2187C>G	NP_001159365.1:p.His729Gln
NM_022123.3:c.2181C>G	NP_071406.1:p.His727Gln
NM_173159.3:c.2238C>G	NP_775182.1:p.His746Gln
NM_001394988.1:c.2232C>G	NP_001381917.1:p.His744Gln
NM_001394989.1:c.2178C>G	NP_001381918.1:p.His726Gln