Canonical Allele Identifier: CA212642
Gene: NALCN HGNC NCBI

Linked Data

ClinVar Variation Id: 188046
dbSNP Id: rs786201003

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101083752C>T , CM000675.2:g.101083752C>T GRCh38
NC_000013.10:g.101736103C>T , CM000675.1:g.101736103C>T GRCh37
NC_000013.9:g.100534104C>T NCBI36
NG_053176.1:g.338455G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251127.11:c.3542G>A MANE Select ENSP00000251127.6:p.Arg1181Gln
ENST00000648359.1:c.3542G>A ENSP00000497465.1:p.Arg1181Gln
ENST00000675150.1:c.3263G>A ENSP00000502680.1:p.Arg1088Gln
ENST00000675332.1:c.3629G>A ENSP00000501955.1:p.Arg1210Gln
ENST00000676315.1:c.3455G>A ENSP00000501603.1:p.Arg1152Gln
ENST00000251127.10:c.3542G>A ENSP00000251127.6:p.Arg1181Gln
NM_052867.2:c.3542G>A NP_443099.1:p.Arg1181Gln
XM_011521067.1:c.3599G>A XP_011519369.1:p.Arg1200Gln
XM_011521068.1:c.3542G>A XP_011519370.1:p.Arg1181Gln
XM_011521069.1:c.3512G>A XP_011519371.1:p.Arg1171Gln
XM_011521070.1:c.3320G>A XP_011519372.1:p.Arg1107Gln
NM_001350748.1:c.3629G>A NP_001337677.1:p.Arg1210Gln
NM_001350749.1:c.3542G>A NP_001337678.1:p.Arg1181Gln
NM_001350750.1:c.3455G>A NP_001337679.1:p.Arg1152Gln
NM_001350751.1:c.3455G>A NP_001337680.1:p.Arg1152Gln
NM_052867.3:c.3542G>A NP_443099.1:p.Arg1181Gln
XM_011521067.2:c.3599G>A XP_011519369.1:p.Arg1200Gln
XM_011521069.2:c.3512G>A XP_011519371.1:p.Arg1171Gln
XM_017020536.2:c.3095G>A XP_016876025.1:p.Arg1032Gln
XM_017020537.1:c.2777G>A XP_016876026.1:p.Arg926Gln
XM_024449336.1:c.3686G>A XP_024305104.1:p.Arg1229Gln
NM_052867.4:c.3542G>A MANE Select NP_443099.1:p.Arg1181Gln
NM_001350748.2:c.3629G>A NP_001337677.1:p.Arg1210Gln
NM_001350749.2:c.3542G>A NP_001337678.1:p.Arg1181Gln
NM_001350750.2:c.3455G>A NP_001337679.1:p.Arg1152Gln
NM_001350751.2:c.3455G>A NP_001337680.1:p.Arg1152Gln