Canonical Allele Identifier: CA16044232
Gene: NALCN HGNC NCBI

Linked Data

ClinVar Variation Id: 375370
dbSNP Id: rs1057519433

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101292072A>G , CM000675.2:g.101292072A>G GRCh38
NC_000013.10:g.101944423A>G , CM000675.1:g.101944423A>G GRCh37
NC_000013.9:g.100742424A>G NCBI36
NG_053176.1:g.130135T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251127.11:c.965T>C MANE Select ENSP00000251127.6:p.Ile322Thr
ENST00000648359.1:c.965T>C ENSP00000497465.1:p.Ile322Thr
ENST00000674840.1:n.1063T>C
ENST00000674904.1:n.1045T>C
ENST00000675075.1:n.567T>C
ENST00000675150.1:c.965T>C ENSP00000502680.1:p.Ile322Thr
ENST00000675332.1:c.965T>C ENSP00000501955.1:p.Ile322Thr
ENST00000675415.1:n.1148T>C
ENST00000675594.1:c.*402T>C ENSP00000502490.1:n.*402T>C
ENST00000675802.1:c.965T>C ENSP00000501818.1:p.Ile322Thr
ENST00000676315.1:c.965T>C ENSP00000501603.1:p.Ile322Thr
ENST00000676439.1:n.1139T>C
ENST00000251127.10:c.965T>C ENSP00000251127.6:p.Ile322Thr
ENST00000470333.1:n.1061T>C
ENST00000497170.5:n.1119T>C
NM_052867.2:c.965T>C NP_443099.1:p.Ile322Thr
XM_011521067.1:c.1022T>C XP_011519369.1:p.Ile341Thr
XM_011521068.1:c.965T>C XP_011519370.1:p.Ile322Thr
XM_011521069.1:c.1022T>C XP_011519371.1:p.Ile341Thr
XM_011521070.1:c.1022T>C XP_011519372.1:p.Ile341Thr
NM_001350748.1:c.965T>C NP_001337677.1:p.Ile322Thr
NM_001350749.1:c.965T>C NP_001337678.1:p.Ile322Thr
NM_001350750.1:c.965T>C NP_001337679.1:p.Ile322Thr
NM_001350751.1:c.965T>C NP_001337680.1:p.Ile322Thr
NM_052867.3:c.965T>C NP_443099.1:p.Ile322Thr
XM_011521067.2:c.1022T>C XP_011519369.1:p.Ile341Thr
XM_011521069.2:c.1022T>C XP_011519371.1:p.Ile341Thr
XM_017020536.2:c.518T>C XP_016876025.1:p.Ile173Thr
XM_017020537.1:c.200T>C XP_016876026.1:p.Ile67Thr
XM_024449336.1:c.1022T>C XP_024305104.1:p.Ile341Thr
NM_052867.4:c.965T>C MANE Select NP_443099.1:p.Ile322Thr
NM_001350748.2:c.965T>C NP_001337677.1:p.Ile322Thr
NM_001350749.2:c.965T>C NP_001337678.1:p.Ile322Thr
NM_001350750.2:c.965T>C NP_001337679.1:p.Ile322Thr
NM_001350751.2:c.965T>C NP_001337680.1:p.Ile322Thr