Canonical Allele Identifier: CA2114382569
Community Standard Title: NM_052867.4(NALCN):c.4338T= (p.Ile1446=)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101068026A= , CM000675.2:g.101068026A= GRCh38
NC_000013.10:g.101720378A= , CM000675.1:g.101720378A= GRCh37
NC_000013.9:g.100518379A= NCBI36
NG_053176.1:g.354181T=

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.4338T= MANE Select NP_443099.1:p.Ile1446=
ENST00000251127.11:c.4338T= MANE Select ENSP00000251127.6:p.Ile1446=
NM_001350748.1:c.4425T= NP_001337677.1:p.Ile1475=
NM_001350748.2:c.4425T= NP_001337677.1:p.Ile1475=
NM_001350749.1:c.4338T= NP_001337678.1:p.Ile1446=
NM_001350749.2:c.4338T= NP_001337678.1:p.Ile1446=
NM_001350750.1:c.4251T= NP_001337679.1:p.Ile1417=
NM_001350750.2:c.4251T= NP_001337679.1:p.Ile1417=
NM_001350751.1:c.4251T= NP_001337680.1:p.Ile1417=
NM_001350751.2:c.4251T= NP_001337680.1:p.Ile1417=
NM_052867.2:c.4338T= NP_443099.1:p.Ile1446=
NM_052867.3:c.4338T= NP_443099.1:p.Ile1446=
ENST00000251127.10:c.4338T= ENSP00000251127.6:p.Ile1446=
ENST00000648359.1:c.4338T= ENSP00000497465.1:p.Ile1446=
ENST00000675150.1:c.4059T= ENSP00000502680.1:p.Ile1353=
ENST00000675332.1:c.4425T= ENSP00000501955.1:p.Ile1475=
ENST00000676315.1:c.4251T= ENSP00000501603.1:p.Ile1417=
XM_011521067.1:c.4395T= XP_011519369.1:p.Ile1465=
XM_011521067.2:c.4395T= XP_011519369.1:p.Ile1465=
XM_011521068.1:c.4338T= XP_011519370.1:p.Ile1446=
XM_011521069.1:c.4308T= XP_011519371.1:p.Ile1436=
XM_011521069.2:c.4308T= XP_011519371.1:p.Ile1436=
XM_011521070.1:c.4116T= XP_011519372.1:p.Ile1372=
XM_017020536.2:c.3891T= XP_016876025.1:p.Ile1297=
XM_017020537.1:c.3573T= XP_016876026.1:p.Ile1191=
XM_024449336.1:c.4482T= XP_024305104.1:p.Ile1494=