Canonical Allele Identifier: CA388704875
Gene: NALCN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101292225T>G , CM000675.2:g.101292225T>G GRCh38
NC_000013.10:g.101944576T>G , CM000675.1:g.101944576T>G GRCh37
NC_000013.9:g.100742577T>G NCBI36
NG_053176.1:g.129982A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251127.11:c.941A>C MANE Select ENSP00000251127.6:p.Lys314Thr
ENST00000648359.1:c.941A>C ENSP00000497465.1:p.Lys314Thr
ENST00000674840.1:n.1039A>C
ENST00000674904.1:n.1021A>C
ENST00000675075.1:n.543A>C
ENST00000675150.1:c.941A>C ENSP00000502680.1:p.Lys314Thr
ENST00000675332.1:c.941A>C ENSP00000501955.1:p.Lys314Thr
ENST00000675415.1:n.1124A>C
ENST00000675594.1:c.*378A>C ENSP00000502490.1:n.*378A>C
ENST00000675802.1:c.941A>C ENSP00000501818.1:p.Lys314Thr
ENST00000676315.1:c.941A>C ENSP00000501603.1:p.Lys314Thr
ENST00000676439.1:n.1115A>C
ENST00000251127.10:c.941A>C ENSP00000251127.6:p.Lys314Thr
ENST00000470333.1:n.1037A>C
ENST00000497170.5:n.1095A>C
NM_052867.2:c.941A>C NP_443099.1:p.Lys314Thr
XM_011521067.1:c.998A>C XP_011519369.1:p.Lys333Thr
XM_011521068.1:c.941A>C XP_011519370.1:p.Lys314Thr
XM_011521069.1:c.998A>C XP_011519371.1:p.Lys333Thr
XM_011521070.1:c.998A>C XP_011519372.1:p.Lys333Thr
NM_001350748.1:c.941A>C NP_001337677.1:p.Lys314Thr
NM_001350749.1:c.941A>C NP_001337678.1:p.Lys314Thr
NM_001350750.1:c.941A>C NP_001337679.1:p.Lys314Thr
NM_001350751.1:c.941A>C NP_001337680.1:p.Lys314Thr
NM_052867.3:c.941A>C NP_443099.1:p.Lys314Thr
XM_011521067.2:c.998A>C XP_011519369.1:p.Lys333Thr
XM_011521069.2:c.998A>C XP_011519371.1:p.Lys333Thr
XM_017020536.2:c.494A>C XP_016876025.1:p.Lys165Thr
XM_017020537.1:c.176A>C XP_016876026.1:p.Lys59Thr
XM_024449336.1:c.998A>C XP_024305104.1:p.Lys333Thr
NM_052867.4:c.941A>C MANE Select NP_443099.1:p.Lys314Thr
NM_001350748.2:c.941A>C NP_001337677.1:p.Lys314Thr
NM_001350749.2:c.941A>C NP_001337678.1:p.Lys314Thr
NM_001350750.2:c.941A>C NP_001337679.1:p.Lys314Thr
NM_001350751.2:c.941A>C NP_001337680.1:p.Lys314Thr