Canonical Allele Identifier: CA255402342
Community Standard Title: NM_052867.4(NALCN):c.4150C>T (p.Arg1384Ter)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101073631G>A , CM000675.2:g.101073631G>A GRCh38
NC_000013.10:g.101725983G>A , CM000675.1:g.101725983G>A GRCh37
NC_000013.9:g.100523984G>A NCBI36
NG_053176.1:g.348576C>T

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.4150C>T MANE Select NP_443099.1:p.Arg1384Ter
ENST00000251127.11:c.4150C>T MANE Select ENSP00000251127.6:p.Arg1384Ter
NM_001350748.1:c.4237C>T NP_001337677.1:p.Arg1413Ter
NM_001350748.2:c.4237C>T NP_001337677.1:p.Arg1413Ter
NM_001350749.1:c.4150C>T NP_001337678.1:p.Arg1384Ter
NM_001350749.2:c.4150C>T NP_001337678.1:p.Arg1384Ter
NM_001350750.1:c.4063C>T NP_001337679.1:p.Arg1355Ter
NM_001350750.2:c.4063C>T NP_001337679.1:p.Arg1355Ter
NM_001350751.1:c.4063C>T NP_001337680.1:p.Arg1355Ter
NM_001350751.2:c.4063C>T NP_001337680.1:p.Arg1355Ter
NM_052867.2:c.4150C>T NP_443099.1:p.Arg1384Ter
NM_052867.3:c.4150C>T NP_443099.1:p.Arg1384Ter
ENST00000251127.10:c.4150C>T ENSP00000251127.6:p.Arg1384Ter
ENST00000648359.1:c.4150C>T ENSP00000497465.1:p.Arg1384Ter
ENST00000675150.1:c.3871C>T ENSP00000502680.1:p.Arg1291Ter
ENST00000675332.1:c.4237C>T ENSP00000501955.1:p.Arg1413Ter
ENST00000676315.1:c.4063C>T ENSP00000501603.1:p.Arg1355Ter
XM_011521067.1:c.4207C>T XP_011519369.1:p.Arg1403Ter
XM_011521067.2:c.4207C>T XP_011519369.1:p.Arg1403Ter
XM_011521068.1:c.4150C>T XP_011519370.1:p.Arg1384Ter
XM_011521069.1:c.4120C>T XP_011519371.1:p.Arg1374Ter
XM_011521069.2:c.4120C>T XP_011519371.1:p.Arg1374Ter
XM_011521070.1:c.3928C>T XP_011519372.1:p.Arg1310Ter
XM_017020536.2:c.3703C>T XP_016876025.1:p.Arg1235Ter
XM_017020537.1:c.3385C>T XP_016876026.1:p.Arg1129Ter
XM_024449336.1:c.4294C>T XP_024305104.1:p.Arg1432Ter