Canonical Allele Identifier: CA7150898

Gene: NPAS3

Linked Data

• ClinVar Variation Id: 718529
• ClinVar RCV Id: RCV000891497
• dbSNP Id: rs201069504
• ExAC: 14:34269370 C / G
• gnomAD v2: 14-34269370-C-G
• gnomAD v3: 14-33800164-C-G
• gnomAD v4: 14-33800164-C-G
• MyVariant Identifiers: chr14:g.34269370C>G (hg19) ; chr14:g.33800164C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800164C>G , CM000676.2:g.33800164C>G	GRCh38
NC_000014.8:g.34269370C>G , CM000676.1:g.34269370C>G	GRCh37
NC_000014.7:g.33339121C>G	NCBI36
NG_013036.1:g.865912C>G
NG_013036.2:g.865912C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1857C>G MANE Select	ENSP00000348460.4:p.Ser619Arg
ENST00000551634.6:c.1866C>G	ENSP00000448373.2:p.Ser622Arg
ENST00000680362.1:c.1757C>G
ENST00000681323.1:c.793+2583C>G
ENST00000346562.6:c.1761C>G	ENSP00000319610.5:p.Ser587Arg
ENST00000356141.8:c.1857C>G	ENSP00000348460.4:p.Ser619Arg
ENST00000357798.9:c.1818C>G	ENSP00000350446.5:p.Ser606Arg
ENST00000548645.5:c.1767C>G	ENSP00000448916.1:p.Ser589Arg
ENST00000551492.5:c.1872C>G	ENSP00000450392.1:p.Ser624Arg
ENST00000551634.5:c.1779C>G	ENSP00000448373.1:p.Ser593Arg
NM_001164749.1:c.1857C>G	NP_001158221.1:p.Ser619Arg
NM_001165893.1:c.1767C>G	NP_001159365.1:p.Ser589Arg
NM_022123.2:c.1761C>G	NP_071406.1:p.Ser587Arg
NM_173159.2:c.1818C>G	NP_775182.1:p.Ser606Arg
XM_005267991.2:c.1878C>G	XP_005268048.1:p.Ser626Arg
XM_005267992.2:c.1872C>G	XP_005268049.1:p.Ser624Arg
XM_005267993.2:c.1818C>G	XP_005268050.1:p.Ser606Arg
XM_011537067.1:c.1908C>G	XP_011535369.1:p.Ser636Arg
XM_011537068.1:c.1899C>G	XP_011535370.1:p.Ser633Arg
XM_011537069.1:c.1869C>G	XP_011535371.1:p.Ser623Arg
XM_011537070.1:c.1812C>G	XP_011535372.1:p.Ser604Arg
XM_011537071.1:c.1779C>G	XP_011535373.1:p.Ser593Arg
XM_011537072.1:c.1758C>G	XP_011535374.1:p.Ser586Arg
XM_011537073.1:c.1551C>G	XP_011535375.1:p.Ser517Arg
XM_011537074.1:c.1551C>G	XP_011535376.1:p.Ser517Arg
XM_005267991.3:c.1965C>G	XP_005268048.2:p.Ser655Arg
XM_005267992.3:c.1959C>G	XP_005268049.2:p.Ser653Arg
XM_011537067.2:c.1908C>G	XP_011535369.1:p.Ser636Arg
XM_011537069.2:c.1956C>G	XP_011535371.2:p.Ser652Arg
XM_011537070.2:c.1812C>G	XP_011535372.1:p.Ser604Arg
XM_011537071.2:c.1866C>G	XP_011535373.2:p.Ser622Arg
XM_011537072.2:c.1758C>G	XP_011535374.1:p.Ser586Arg
XM_017021582.1:c.2016C>G	XP_016877071.1:p.Ser672Arg
XM_017021583.1:c.2007C>G	XP_016877072.1:p.Ser669Arg
XM_017021584.1:c.1926C>G	XP_016877073.1:p.Ser642Arg
XM_017021585.1:c.1875C>G	XP_016877074.1:p.Ser625Arg
XM_017021586.1:c.1551C>G	XP_016877075.1:p.Ser517Arg
XM_017021587.1:c.1551C>G	XP_016877076.1:p.Ser517Arg
XM_017021588.1:c.1551C>G	XP_016877077.1:p.Ser517Arg
NM_001164749.2:c.1857C>G MANE Select	NP_001158221.1:p.Ser619Arg
NM_001165893.2:c.1767C>G	NP_001159365.1:p.Ser589Arg
NM_022123.3:c.1761C>G	NP_071406.1:p.Ser587Arg
NM_173159.3:c.1818C>G	NP_775182.1:p.Ser606Arg
NM_001394988.1:c.1812C>G	NP_001381917.1:p.Ser604Arg
NM_001394989.1:c.1758C>G	NP_001381918.1:p.Ser586Arg