Canonical Allele Identifier: CA389413997

Gene: NPAS3

Linked Data

• dbSNP Id: rs1194971439
• gnomAD v4: 14-33800430-A-C
• MyVariant Identifiers: chr14:g.34269636A>C (hg19) ; chr14:g.33800430A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800430A>C , CM000676.2:g.33800430A>C	GRCh38
NC_000014.8:g.34269636A>C , CM000676.1:g.34269636A>C	GRCh37
NC_000014.7:g.33339387A>C	NCBI36
NG_013036.1:g.866178A>C
NG_013036.2:g.866178A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2123A>C MANE Select	ENSP00000348460.4:p.His708Pro
ENST00000551634.6:c.2132A>C	ENSP00000448373.2:p.His711Pro
ENST00000680362.1:c.2023A>C
ENST00000681323.1:c.793+2849A>C
ENST00000346562.6:c.2027A>C	ENSP00000319610.5:p.His676Pro
ENST00000356141.8:c.2123A>C	ENSP00000348460.4:p.His708Pro
ENST00000357798.9:c.2084A>C	ENSP00000350446.5:p.His695Pro
ENST00000548645.5:c.2033A>C	ENSP00000448916.1:p.His678Pro
ENST00000551492.5:c.2138A>C	ENSP00000450392.1:p.His713Pro
ENST00000551634.5:c.2045A>C	ENSP00000448373.1:p.His682Pro
NM_001164749.1:c.2123A>C	NP_001158221.1:p.His708Pro
NM_001165893.1:c.2033A>C	NP_001159365.1:p.His678Pro
NM_022123.2:c.2027A>C	NP_071406.1:p.His676Pro
NM_173159.2:c.2084A>C	NP_775182.1:p.His695Pro
XM_005267991.2:c.2144A>C	XP_005268048.1:p.His715Pro
XM_005267992.2:c.2138A>C	XP_005268049.1:p.His713Pro
XM_005267993.2:c.2084A>C	XP_005268050.1:p.His695Pro
XM_011537067.1:c.2174A>C	XP_011535369.1:p.His725Pro
XM_011537068.1:c.2165A>C	XP_011535370.1:p.His722Pro
XM_011537069.1:c.2135A>C	XP_011535371.1:p.His712Pro
XM_011537070.1:c.2078A>C	XP_011535372.1:p.His693Pro
XM_011537071.1:c.2045A>C	XP_011535373.1:p.His682Pro
XM_011537072.1:c.2024A>C	XP_011535374.1:p.His675Pro
XM_011537073.1:c.1817A>C	XP_011535375.1:p.His606Pro
XM_011537074.1:c.1817A>C	XP_011535376.1:p.His606Pro
XM_005267991.3:c.2231A>C	XP_005268048.2:p.His744Pro
XM_005267992.3:c.2225A>C	XP_005268049.2:p.His742Pro
XM_011537067.2:c.2174A>C	XP_011535369.1:p.His725Pro
XM_011537069.2:c.2222A>C	XP_011535371.2:p.His741Pro
XM_011537070.2:c.2078A>C	XP_011535372.1:p.His693Pro
XM_011537071.2:c.2132A>C	XP_011535373.2:p.His711Pro
XM_011537072.2:c.2024A>C	XP_011535374.1:p.His675Pro
XM_017021582.1:c.2282A>C	XP_016877071.1:p.His761Pro
XM_017021583.1:c.2273A>C	XP_016877072.1:p.His758Pro
XM_017021584.1:c.2192A>C	XP_016877073.1:p.His731Pro
XM_017021585.1:c.2141A>C	XP_016877074.1:p.His714Pro
XM_017021586.1:c.1817A>C	XP_016877075.1:p.His606Pro
XM_017021587.1:c.1817A>C	XP_016877076.1:p.His606Pro
XM_017021588.1:c.1817A>C	XP_016877077.1:p.His606Pro
NM_001164749.2:c.2123A>C MANE Select	NP_001158221.1:p.His708Pro
NM_001165893.2:c.2033A>C	NP_001159365.1:p.His678Pro
NM_022123.3:c.2027A>C	NP_071406.1:p.His676Pro
NM_173159.3:c.2084A>C	NP_775182.1:p.His695Pro
NM_001394988.1:c.2078A>C	NP_001381917.1:p.His693Pro
NM_001394989.1:c.2024A>C	NP_001381918.1:p.His675Pro