Canonical Allele Identifier: CA358082
Gene: NALCN HGNC NCBI

Linked Data

ClinVar Variation Id: 225108
ClinVar RCV Id: RCV000210615
dbSNP Id: rs757674263

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101111216G>A , CM000675.2:g.101111216G>A GRCh38
NC_000013.10:g.101763567G>A , CM000675.1:g.101763567G>A GRCh37
NC_000013.9:g.100561568G>A NCBI36
NG_053176.1:g.310991C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251127.11:c.2203C>T MANE Select ENSP00000251127.6:p.Arg735Ter
ENST00000648359.1:c.2203C>T ENSP00000497465.1:p.Arg735Ter
ENST00000675150.1:c.1924C>T ENSP00000502680.1:p.Arg642Ter
ENST00000675332.1:c.2290C>T ENSP00000501955.1:p.Arg764Ter
ENST00000676315.1:c.2116C>T ENSP00000501603.1:p.Arg706Ter
ENST00000251127.10:c.2203C>T ENSP00000251127.6:p.Arg735Ter
NM_052867.2:c.2203C>T NP_443099.1:p.Arg735Ter
XM_011521067.1:c.2260C>T XP_011519369.1:p.Arg754Ter
XM_011521068.1:c.2203C>T XP_011519370.1:p.Arg735Ter
XM_011521069.1:c.2173C>T XP_011519371.1:p.Arg725Ter
XM_011521070.1:c.1981C>T XP_011519372.1:p.Arg661Ter
NM_001350748.1:c.2290C>T NP_001337677.1:p.Arg764Ter
NM_001350749.1:c.2203C>T NP_001337678.1:p.Arg735Ter
NM_001350750.1:c.2116C>T NP_001337679.1:p.Arg706Ter
NM_001350751.1:c.2116C>T NP_001337680.1:p.Arg706Ter
NM_052867.3:c.2203C>T NP_443099.1:p.Arg735Ter
XM_011521067.2:c.2260C>T XP_011519369.1:p.Arg754Ter
XM_011521069.2:c.2173C>T XP_011519371.1:p.Arg725Ter
XM_017020536.2:c.1756C>T XP_016876025.1:p.Arg586Ter
XM_017020537.1:c.1438C>T XP_016876026.1:p.Arg480Ter
XM_024449336.1:c.2347C>T XP_024305104.1:p.Arg783Ter
NM_052867.4:c.2203C>T MANE Select NP_443099.1:p.Arg735Ter
NM_001350748.2:c.2290C>T NP_001337677.1:p.Arg764Ter
NM_001350749.2:c.2203C>T NP_001337678.1:p.Arg735Ter
NM_001350750.2:c.2116C>T NP_001337679.1:p.Arg706Ter
NM_001350751.2:c.2116C>T NP_001337680.1:p.Arg706Ter