Canonical Allele Identifier: CA389413249

Gene: NPAS3

Linked Data

• ClinVar Variation Id: 3201530
• ClinVar RCV Id: RCV004490875
• dbSNP Id: rs1472508607
• gnomAD v2: 14-34269468-T-C
• gnomAD v3: 14-33800262-T-C
• gnomAD v4: 14-33800262-T-C
• MyVariant Identifiers: chr14:g.34269468T>C (hg19) ; chr14:g.33800262T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800262T>C , CM000676.2:g.33800262T>C	GRCh38
NC_000014.8:g.34269468T>C , CM000676.1:g.34269468T>C	GRCh37
NC_000014.7:g.33339219T>C	NCBI36
NG_013036.1:g.866010T>C
NG_013036.2:g.866010T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1955T>C MANE Select	ENSP00000348460.4:p.Ile652Thr
ENST00000551634.6:c.1964T>C	ENSP00000448373.2:p.Ile655Thr
ENST00000680362.1:c.1855T>C
ENST00000681323.1:c.793+2681T>C
ENST00000346562.6:c.1859T>C	ENSP00000319610.5:p.Ile620Thr
ENST00000356141.8:c.1955T>C	ENSP00000348460.4:p.Ile652Thr
ENST00000357798.9:c.1916T>C	ENSP00000350446.5:p.Ile639Thr
ENST00000548645.5:c.1865T>C	ENSP00000448916.1:p.Ile622Thr
ENST00000551492.5:c.1970T>C	ENSP00000450392.1:p.Ile657Thr
ENST00000551634.5:c.1877T>C	ENSP00000448373.1:p.Ile626Thr
NM_001164749.1:c.1955T>C	NP_001158221.1:p.Ile652Thr
NM_001165893.1:c.1865T>C	NP_001159365.1:p.Ile622Thr
NM_022123.2:c.1859T>C	NP_071406.1:p.Ile620Thr
NM_173159.2:c.1916T>C	NP_775182.1:p.Ile639Thr
XM_005267991.2:c.1976T>C	XP_005268048.1:p.Ile659Thr
XM_005267992.2:c.1970T>C	XP_005268049.1:p.Ile657Thr
XM_005267993.2:c.1916T>C	XP_005268050.1:p.Ile639Thr
XM_011537067.1:c.2006T>C	XP_011535369.1:p.Ile669Thr
XM_011537068.1:c.1997T>C	XP_011535370.1:p.Ile666Thr
XM_011537069.1:c.1967T>C	XP_011535371.1:p.Ile656Thr
XM_011537070.1:c.1910T>C	XP_011535372.1:p.Ile637Thr
XM_011537071.1:c.1877T>C	XP_011535373.1:p.Ile626Thr
XM_011537072.1:c.1856T>C	XP_011535374.1:p.Ile619Thr
XM_011537073.1:c.1649T>C	XP_011535375.1:p.Ile550Thr
XM_011537074.1:c.1649T>C	XP_011535376.1:p.Ile550Thr
XM_005267991.3:c.2063T>C	XP_005268048.2:p.Ile688Thr
XM_005267992.3:c.2057T>C	XP_005268049.2:p.Ile686Thr
XM_011537067.2:c.2006T>C	XP_011535369.1:p.Ile669Thr
XM_011537069.2:c.2054T>C	XP_011535371.2:p.Ile685Thr
XM_011537070.2:c.1910T>C	XP_011535372.1:p.Ile637Thr
XM_011537071.2:c.1964T>C	XP_011535373.2:p.Ile655Thr
XM_011537072.2:c.1856T>C	XP_011535374.1:p.Ile619Thr
XM_017021582.1:c.2114T>C	XP_016877071.1:p.Ile705Thr
XM_017021583.1:c.2105T>C	XP_016877072.1:p.Ile702Thr
XM_017021584.1:c.2024T>C	XP_016877073.1:p.Ile675Thr
XM_017021585.1:c.1973T>C	XP_016877074.1:p.Ile658Thr
XM_017021586.1:c.1649T>C	XP_016877075.1:p.Ile550Thr
XM_017021587.1:c.1649T>C	XP_016877076.1:p.Ile550Thr
XM_017021588.1:c.1649T>C	XP_016877077.1:p.Ile550Thr
NM_001164749.2:c.1955T>C MANE Select	NP_001158221.1:p.Ile652Thr
NM_001165893.2:c.1865T>C	NP_001159365.1:p.Ile622Thr
NM_022123.3:c.1859T>C	NP_071406.1:p.Ile620Thr
NM_173159.3:c.1916T>C	NP_775182.1:p.Ile639Thr
NM_001394988.1:c.1910T>C	NP_001381917.1:p.Ile637Thr
NM_001394989.1:c.1856T>C	NP_001381918.1:p.Ile619Thr