Canonical Allele Identifier: CA7150928

Gene: NPAS3

Linked Data

• dbSNP Id: rs750013029
• ExAC: 14:34269576 C / T
• gnomAD v2: 14-34269576-C-T
• gnomAD v3: 14-33800370-C-T
• gnomAD v4: 14-33800370-C-T
• MyVariant Identifiers: chr14:g.34269576C>T (hg19) ; chr14:g.33800370C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800370C>T , CM000676.2:g.33800370C>T	GRCh38
NC_000014.8:g.34269576C>T , CM000676.1:g.34269576C>T	GRCh37
NC_000014.7:g.33339327C>T	NCBI36
NG_013036.1:g.866118C>T
NG_013036.2:g.866118C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2063C>T MANE Select	ENSP00000348460.4:p.Ser688Phe
ENST00000551634.6:c.2072C>T	ENSP00000448373.2:p.Ser691Phe
ENST00000680362.1:c.1963C>T
ENST00000681323.1:c.793+2789C>T
ENST00000346562.6:c.1967C>T	ENSP00000319610.5:p.Ser656Phe
ENST00000356141.8:c.2063C>T	ENSP00000348460.4:p.Ser688Phe
ENST00000357798.9:c.2024C>T	ENSP00000350446.5:p.Ser675Phe
ENST00000548645.5:c.1973C>T	ENSP00000448916.1:p.Ser658Phe
ENST00000551492.5:c.2078C>T	ENSP00000450392.1:p.Ser693Phe
ENST00000551634.5:c.1985C>T	ENSP00000448373.1:p.Ser662Phe
NM_001164749.1:c.2063C>T	NP_001158221.1:p.Ser688Phe
NM_001165893.1:c.1973C>T	NP_001159365.1:p.Ser658Phe
NM_022123.2:c.1967C>T	NP_071406.1:p.Ser656Phe
NM_173159.2:c.2024C>T	NP_775182.1:p.Ser675Phe
XM_005267991.2:c.2084C>T	XP_005268048.1:p.Ser695Phe
XM_005267992.2:c.2078C>T	XP_005268049.1:p.Ser693Phe
XM_005267993.2:c.2024C>T	XP_005268050.1:p.Ser675Phe
XM_011537067.1:c.2114C>T	XP_011535369.1:p.Ser705Phe
XM_011537068.1:c.2105C>T	XP_011535370.1:p.Ser702Phe
XM_011537069.1:c.2075C>T	XP_011535371.1:p.Ser692Phe
XM_011537070.1:c.2018C>T	XP_011535372.1:p.Ser673Phe
XM_011537071.1:c.1985C>T	XP_011535373.1:p.Ser662Phe
XM_011537072.1:c.1964C>T	XP_011535374.1:p.Ser655Phe
XM_011537073.1:c.1757C>T	XP_011535375.1:p.Ser586Phe
XM_011537074.1:c.1757C>T	XP_011535376.1:p.Ser586Phe
XM_005267991.3:c.2171C>T	XP_005268048.2:p.Ser724Phe
XM_005267992.3:c.2165C>T	XP_005268049.2:p.Ser722Phe
XM_011537067.2:c.2114C>T	XP_011535369.1:p.Ser705Phe
XM_011537069.2:c.2162C>T	XP_011535371.2:p.Ser721Phe
XM_011537070.2:c.2018C>T	XP_011535372.1:p.Ser673Phe
XM_011537071.2:c.2072C>T	XP_011535373.2:p.Ser691Phe
XM_011537072.2:c.1964C>T	XP_011535374.1:p.Ser655Phe
XM_017021582.1:c.2222C>T	XP_016877071.1:p.Ser741Phe
XM_017021583.1:c.2213C>T	XP_016877072.1:p.Ser738Phe
XM_017021584.1:c.2132C>T	XP_016877073.1:p.Ser711Phe
XM_017021585.1:c.2081C>T	XP_016877074.1:p.Ser694Phe
XM_017021586.1:c.1757C>T	XP_016877075.1:p.Ser586Phe
XM_017021587.1:c.1757C>T	XP_016877076.1:p.Ser586Phe
XM_017021588.1:c.1757C>T	XP_016877077.1:p.Ser586Phe
NM_001164749.2:c.2063C>T MANE Select	NP_001158221.1:p.Ser688Phe
NM_001165893.2:c.1973C>T	NP_001159365.1:p.Ser658Phe
NM_022123.3:c.1967C>T	NP_071406.1:p.Ser656Phe
NM_173159.3:c.2024C>T	NP_775182.1:p.Ser675Phe
NM_001394988.1:c.2018C>T	NP_001381917.1:p.Ser673Phe
NM_001394989.1:c.1964C>T	NP_001381918.1:p.Ser655Phe