Canonical Allele Identifier: CA7150874

Gene: NPAS3

Linked Data

• ClinVar Variation Id: 2222999
• ClinVar RCV Id: RCV004084161
• dbSNP Id: rs770665316
• ExAC: 14:34269279 C / G
• gnomAD v2: 14-34269279-C-G
• gnomAD v4: 14-33800073-C-G
• MyVariant Identifiers: chr14:g.34269279C>G (hg19) ; chr14:g.33800073C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800073C>G , CM000676.2:g.33800073C>G	GRCh38
NC_000014.8:g.34269279C>G , CM000676.1:g.34269279C>G	GRCh37
NC_000014.7:g.33339030C>G	NCBI36
NG_013036.1:g.865821C>G
NG_013036.2:g.865821C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1766C>G MANE Select	ENSP00000348460.4:p.Ala589Gly
ENST00000551634.6:c.1775C>G	ENSP00000448373.2:p.Ala592Gly
ENST00000680362.1:c.1666C>G
ENST00000681323.1:c.793+2492C>G
ENST00000346562.6:c.1670C>G	ENSP00000319610.5:p.Ala557Gly
ENST00000356141.8:c.1766C>G	ENSP00000348460.4:p.Ala589Gly
ENST00000357798.9:c.1727C>G	ENSP00000350446.5:p.Ala576Gly
ENST00000548645.5:c.1676C>G	ENSP00000448916.1:p.Ala559Gly
ENST00000551492.5:c.1781C>G	ENSP00000450392.1:p.Ala594Gly
ENST00000551634.5:c.1688C>G	ENSP00000448373.1:p.Ala563Gly
NM_001164749.1:c.1766C>G	NP_001158221.1:p.Ala589Gly
NM_001165893.1:c.1676C>G	NP_001159365.1:p.Ala559Gly
NM_022123.2:c.1670C>G	NP_071406.1:p.Ala557Gly
NM_173159.2:c.1727C>G	NP_775182.1:p.Ala576Gly
XM_005267991.2:c.1787C>G	XP_005268048.1:p.Ala596Gly
XM_005267992.2:c.1781C>G	XP_005268049.1:p.Ala594Gly
XM_005267993.2:c.1727C>G	XP_005268050.1:p.Ala576Gly
XM_011537067.1:c.1817C>G	XP_011535369.1:p.Ala606Gly
XM_011537068.1:c.1808C>G	XP_011535370.1:p.Ala603Gly
XM_011537069.1:c.1778C>G	XP_011535371.1:p.Ala593Gly
XM_011537070.1:c.1721C>G	XP_011535372.1:p.Ala574Gly
XM_011537071.1:c.1688C>G	XP_011535373.1:p.Ala563Gly
XM_011537072.1:c.1667C>G	XP_011535374.1:p.Ala556Gly
XM_011537073.1:c.1460C>G	XP_011535375.1:p.Ala487Gly
XM_011537074.1:c.1460C>G	XP_011535376.1:p.Ala487Gly
XM_005267991.3:c.1874C>G	XP_005268048.2:p.Ala625Gly
XM_005267992.3:c.1868C>G	XP_005268049.2:p.Ala623Gly
XM_011537067.2:c.1817C>G	XP_011535369.1:p.Ala606Gly
XM_011537069.2:c.1865C>G	XP_011535371.2:p.Ala622Gly
XM_011537070.2:c.1721C>G	XP_011535372.1:p.Ala574Gly
XM_011537071.2:c.1775C>G	XP_011535373.2:p.Ala592Gly
XM_011537072.2:c.1667C>G	XP_011535374.1:p.Ala556Gly
XM_017021582.1:c.1925C>G	XP_016877071.1:p.Ala642Gly
XM_017021583.1:c.1916C>G	XP_016877072.1:p.Ala639Gly
XM_017021584.1:c.1835C>G	XP_016877073.1:p.Ala612Gly
XM_017021585.1:c.1784C>G	XP_016877074.1:p.Ala595Gly
XM_017021586.1:c.1460C>G	XP_016877075.1:p.Ala487Gly
XM_017021587.1:c.1460C>G	XP_016877076.1:p.Ala487Gly
XM_017021588.1:c.1460C>G	XP_016877077.1:p.Ala487Gly
NM_001164749.2:c.1766C>G MANE Select	NP_001158221.1:p.Ala589Gly
NM_001165893.2:c.1676C>G	NP_001159365.1:p.Ala559Gly
NM_022123.3:c.1670C>G	NP_071406.1:p.Ala557Gly
NM_173159.3:c.1727C>G	NP_775182.1:p.Ala576Gly
NM_001394988.1:c.1721C>G	NP_001381917.1:p.Ala574Gly
NM_001394989.1:c.1667C>G	NP_001381918.1:p.Ala556Gly