Canonical Allele Identifier: CA389413176

Gene: NPAS3

Linked Data

• dbSNP Id: rs1224050475
• gnomAD v2: 14-34269449-C-T
• gnomAD v4: 14-33800243-C-T
• MyVariant Identifiers: chr14:g.34269449C>T (hg19) ; chr14:g.33800243C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800243C>T , CM000676.2:g.33800243C>T	GRCh38
NC_000014.8:g.34269449C>T , CM000676.1:g.34269449C>T	GRCh37
NC_000014.7:g.33339200C>T	NCBI36
NG_013036.1:g.865991C>T
NG_013036.2:g.865991C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1936C>T MANE Select	ENSP00000348460.4:p.Leu646Phe
ENST00000551634.6:c.1945C>T	ENSP00000448373.2:p.Leu649Phe
ENST00000680362.1:c.1836C>T
ENST00000681323.1:c.793+2662C>T
ENST00000346562.6:c.1840C>T	ENSP00000319610.5:p.Leu614Phe
ENST00000356141.8:c.1936C>T	ENSP00000348460.4:p.Leu646Phe
ENST00000357798.9:c.1897C>T	ENSP00000350446.5:p.Leu633Phe
ENST00000548645.5:c.1846C>T	ENSP00000448916.1:p.Leu616Phe
ENST00000551492.5:c.1951C>T	ENSP00000450392.1:p.Leu651Phe
ENST00000551634.5:c.1858C>T	ENSP00000448373.1:p.Leu620Phe
NM_001164749.1:c.1936C>T	NP_001158221.1:p.Leu646Phe
NM_001165893.1:c.1846C>T	NP_001159365.1:p.Leu616Phe
NM_022123.2:c.1840C>T	NP_071406.1:p.Leu614Phe
NM_173159.2:c.1897C>T	NP_775182.1:p.Leu633Phe
XM_005267991.2:c.1957C>T	XP_005268048.1:p.Leu653Phe
XM_005267992.2:c.1951C>T	XP_005268049.1:p.Leu651Phe
XM_005267993.2:c.1897C>T	XP_005268050.1:p.Leu633Phe
XM_011537067.1:c.1987C>T	XP_011535369.1:p.Leu663Phe
XM_011537068.1:c.1978C>T	XP_011535370.1:p.Leu660Phe
XM_011537069.1:c.1948C>T	XP_011535371.1:p.Leu650Phe
XM_011537070.1:c.1891C>T	XP_011535372.1:p.Leu631Phe
XM_011537071.1:c.1858C>T	XP_011535373.1:p.Leu620Phe
XM_011537072.1:c.1837C>T	XP_011535374.1:p.Leu613Phe
XM_011537073.1:c.1630C>T	XP_011535375.1:p.Leu544Phe
XM_011537074.1:c.1630C>T	XP_011535376.1:p.Leu544Phe
XM_005267991.3:c.2044C>T	XP_005268048.2:p.Leu682Phe
XM_005267992.3:c.2038C>T	XP_005268049.2:p.Leu680Phe
XM_011537067.2:c.1987C>T	XP_011535369.1:p.Leu663Phe
XM_011537069.2:c.2035C>T	XP_011535371.2:p.Leu679Phe
XM_011537070.2:c.1891C>T	XP_011535372.1:p.Leu631Phe
XM_011537071.2:c.1945C>T	XP_011535373.2:p.Leu649Phe
XM_011537072.2:c.1837C>T	XP_011535374.1:p.Leu613Phe
XM_017021582.1:c.2095C>T	XP_016877071.1:p.Leu699Phe
XM_017021583.1:c.2086C>T	XP_016877072.1:p.Leu696Phe
XM_017021584.1:c.2005C>T	XP_016877073.1:p.Leu669Phe
XM_017021585.1:c.1954C>T	XP_016877074.1:p.Leu652Phe
XM_017021586.1:c.1630C>T	XP_016877075.1:p.Leu544Phe
XM_017021587.1:c.1630C>T	XP_016877076.1:p.Leu544Phe
XM_017021588.1:c.1630C>T	XP_016877077.1:p.Leu544Phe
NM_001164749.2:c.1936C>T MANE Select	NP_001158221.1:p.Leu646Phe
NM_001165893.2:c.1846C>T	NP_001159365.1:p.Leu616Phe
NM_022123.3:c.1840C>T	NP_071406.1:p.Leu614Phe
NM_173159.3:c.1897C>T	NP_775182.1:p.Leu633Phe
NM_001394988.1:c.1891C>T	NP_001381917.1:p.Leu631Phe
NM_001394989.1:c.1837C>T	NP_001381918.1:p.Leu613Phe