Canonical Allele Identifier: CA7150914

Gene: NPAS3

Linked Data

• ClinVar Variation Id: 2325752
• ClinVar RCV Id: RCV004171399
• dbSNP Id: rs746892610
• ExAC: 14:34269446 G / A
• gnomAD v2: 14-34269446-G-A
• gnomAD v3: 14-33800240-G-A
• gnomAD v4: 14-33800240-G-A
• MyVariant Identifiers: chr14:g.34269446G>A (hg19) ; chr14:g.33800240G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800240G>A , CM000676.2:g.33800240G>A	GRCh38
NC_000014.8:g.34269446G>A , CM000676.1:g.34269446G>A	GRCh37
NC_000014.7:g.33339197G>A	NCBI36
NG_013036.1:g.865988G>A
NG_013036.2:g.865988G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1933G>A MANE Select	ENSP00000348460.4:p.Val645Met
ENST00000551634.6:c.1942G>A	ENSP00000448373.2:p.Val648Met
ENST00000680362.1:c.1833G>A
ENST00000681323.1:c.793+2659G>A
ENST00000346562.6:c.1837G>A	ENSP00000319610.5:p.Val613Met
ENST00000356141.8:c.1933G>A	ENSP00000348460.4:p.Val645Met
ENST00000357798.9:c.1894G>A	ENSP00000350446.5:p.Val632Met
ENST00000548645.5:c.1843G>A	ENSP00000448916.1:p.Val615Met
ENST00000551492.5:c.1948G>A	ENSP00000450392.1:p.Val650Met
ENST00000551634.5:c.1855G>A	ENSP00000448373.1:p.Val619Met
NM_001164749.1:c.1933G>A	NP_001158221.1:p.Val645Met
NM_001165893.1:c.1843G>A	NP_001159365.1:p.Val615Met
NM_022123.2:c.1837G>A	NP_071406.1:p.Val613Met
NM_173159.2:c.1894G>A	NP_775182.1:p.Val632Met
XM_005267991.2:c.1954G>A	XP_005268048.1:p.Val652Met
XM_005267992.2:c.1948G>A	XP_005268049.1:p.Val650Met
XM_005267993.2:c.1894G>A	XP_005268050.1:p.Val632Met
XM_011537067.1:c.1984G>A	XP_011535369.1:p.Val662Met
XM_011537068.1:c.1975G>A	XP_011535370.1:p.Val659Met
XM_011537069.1:c.1945G>A	XP_011535371.1:p.Val649Met
XM_011537070.1:c.1888G>A	XP_011535372.1:p.Val630Met
XM_011537071.1:c.1855G>A	XP_011535373.1:p.Val619Met
XM_011537072.1:c.1834G>A	XP_011535374.1:p.Val612Met
XM_011537073.1:c.1627G>A	XP_011535375.1:p.Val543Met
XM_011537074.1:c.1627G>A	XP_011535376.1:p.Val543Met
XM_005267991.3:c.2041G>A	XP_005268048.2:p.Val681Met
XM_005267992.3:c.2035G>A	XP_005268049.2:p.Val679Met
XM_011537067.2:c.1984G>A	XP_011535369.1:p.Val662Met
XM_011537069.2:c.2032G>A	XP_011535371.2:p.Val678Met
XM_011537070.2:c.1888G>A	XP_011535372.1:p.Val630Met
XM_011537071.2:c.1942G>A	XP_011535373.2:p.Val648Met
XM_011537072.2:c.1834G>A	XP_011535374.1:p.Val612Met
XM_017021582.1:c.2092G>A	XP_016877071.1:p.Val698Met
XM_017021583.1:c.2083G>A	XP_016877072.1:p.Val695Met
XM_017021584.1:c.2002G>A	XP_016877073.1:p.Val668Met
XM_017021585.1:c.1951G>A	XP_016877074.1:p.Val651Met
XM_017021586.1:c.1627G>A	XP_016877075.1:p.Val543Met
XM_017021587.1:c.1627G>A	XP_016877076.1:p.Val543Met
XM_017021588.1:c.1627G>A	XP_016877077.1:p.Val543Met
NM_001164749.2:c.1933G>A MANE Select	NP_001158221.1:p.Val645Met
NM_001165893.2:c.1843G>A	NP_001159365.1:p.Val615Met
NM_022123.3:c.1837G>A	NP_071406.1:p.Val613Met
NM_173159.3:c.1894G>A	NP_775182.1:p.Val632Met
NM_001394988.1:c.1888G>A	NP_001381917.1:p.Val630Met
NM_001394989.1:c.1834G>A	NP_001381918.1:p.Val612Met