Canonical Allele Identifier: CA10654765
Gene: NALCN HGNC NCBI

Linked Data

ClinVar Variation Id: 369675
ClinVar RCV Id: RCV000408614
dbSNP Id: rs1057516040

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101292052T>C , CM000675.2:g.101292052T>C GRCh38
NC_000013.10:g.101944403T>C , CM000675.1:g.101944403T>C GRCh37
NC_000013.9:g.100742404T>C NCBI36
NG_053176.1:g.130155A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000251127.11:c.985A>G MANE Select ENSP00000251127.6:p.Arg329Gly
ENST00000648359.1:c.985A>G ENSP00000497465.1:p.Arg329Gly
ENST00000674840.1:n.1083A>G
ENST00000674904.1:n.1065A>G
ENST00000675150.1:c.985A>G ENSP00000502680.1:p.Arg329Gly
ENST00000675332.1:c.985A>G ENSP00000501955.1:p.Arg329Gly
ENST00000675415.1:n.1168A>G
ENST00000675594.1:c.*422A>G ENSP00000502490.1:n.*422A>G
ENST00000675802.1:c.985A>G ENSP00000501818.1:p.Arg329Gly
ENST00000676315.1:c.985A>G ENSP00000501603.1:p.Arg329Gly
ENST00000676439.1:n.1159A>G
ENST00000251127.10:c.985A>G ENSP00000251127.6:p.Arg329Gly
ENST00000470333.1:n.1081A>G
ENST00000497170.5:n.1139A>G
NM_052867.2:c.985A>G NP_443099.1:p.Arg329Gly
XM_011521067.1:c.1042A>G XP_011519369.1:p.Arg348Gly
XM_011521068.1:c.985A>G XP_011519370.1:p.Arg329Gly
XM_011521069.1:c.1042A>G XP_011519371.1:p.Arg348Gly
XM_011521070.1:c.1042A>G XP_011519372.1:p.Arg348Gly
NM_001350748.1:c.985A>G NP_001337677.1:p.Arg329Gly
NM_001350749.1:c.985A>G NP_001337678.1:p.Arg329Gly
NM_001350750.1:c.985A>G NP_001337679.1:p.Arg329Gly
NM_001350751.1:c.985A>G NP_001337680.1:p.Arg329Gly
NM_052867.3:c.985A>G NP_443099.1:p.Arg329Gly
XM_011521067.2:c.1042A>G XP_011519369.1:p.Arg348Gly
XM_011521069.2:c.1042A>G XP_011519371.1:p.Arg348Gly
XM_017020536.2:c.538A>G XP_016876025.1:p.Arg180Gly
XM_017020537.1:c.220A>G XP_016876026.1:p.Arg74Gly
XM_024449336.1:c.1042A>G XP_024305104.1:p.Arg348Gly
NM_052867.4:c.985A>G MANE Select NP_443099.1:p.Arg329Gly
NM_001350748.2:c.985A>G NP_001337677.1:p.Arg329Gly
NM_001350749.2:c.985A>G NP_001337678.1:p.Arg329Gly
NM_001350750.2:c.985A>G NP_001337679.1:p.Arg329Gly
NM_001350751.2:c.985A>G NP_001337680.1:p.Arg329Gly