Canonical Allele Identifier: CA388646944

Gene: NALCN

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101068698C>T , CM000675.2:g.101068698C>T	GRCh38
NC_000013.10:g.101721050C>T , CM000675.1:g.101721050C>T	GRCh37
NC_000013.9:g.100519051C>T	NCBI36
NG_053176.1:g.353509G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_052867.4:c.4327G>A MANE Select	NP_443099.1:p.Val1443Ile
ENST00000251127.11:c.4327G>A MANE Select	ENSP00000251127.6:p.Val1443Ile
NM_001350748.1:c.4414G>A	NP_001337677.1:p.Val1472Ile
NM_001350748.2:c.4414G>A	NP_001337677.1:p.Val1472Ile
NM_001350749.1:c.4327G>A	NP_001337678.1:p.Val1443Ile
NM_001350749.2:c.4327G>A	NP_001337678.1:p.Val1443Ile
NM_001350750.1:c.4240G>A	NP_001337679.1:p.Val1414Ile
NM_001350750.2:c.4240G>A	NP_001337679.1:p.Val1414Ile
NM_001350751.1:c.4240G>A	NP_001337680.1:p.Val1414Ile
NM_001350751.2:c.4240G>A	NP_001337680.1:p.Val1414Ile
NM_052867.2:c.4327G>A	NP_443099.1:p.Val1443Ile
NM_052867.3:c.4327G>A	NP_443099.1:p.Val1443Ile
ENST00000251127.10:c.4327G>A	ENSP00000251127.6:p.Val1443Ile
ENST00000648359.1:c.4327G>A	ENSP00000497465.1:p.Val1443Ile
ENST00000675150.1:c.4048G>A	ENSP00000502680.1:p.Val1350Ile
ENST00000675332.1:c.4414G>A	ENSP00000501955.1:p.Val1472Ile
ENST00000676315.1:c.4240G>A	ENSP00000501603.1:p.Val1414Ile
XM_011521067.1:c.4384G>A	XP_011519369.1:p.Val1462Ile
XM_011521067.2:c.4384G>A	XP_011519369.1:p.Val1462Ile
XM_011521068.1:c.4327G>A	XP_011519370.1:p.Val1443Ile
XM_011521069.1:c.4297G>A	XP_011519371.1:p.Val1433Ile
XM_011521069.2:c.4297G>A	XP_011519371.1:p.Val1433Ile
XM_011521070.1:c.4105G>A	XP_011519372.1:p.Val1369Ile
XM_017020536.2:c.3880G>A	XP_016876025.1:p.Val1294Ile
XM_017020537.1:c.3562G>A	XP_016876026.1:p.Val1188Ile
XM_024449336.1:c.4471G>A	XP_024305104.1:p.Val1491Ile