Canonical Allele Identifier: CA388704747
Gene: NALCN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101292045T>A , CM000675.2:g.101292045T>A GRCh38
NC_000013.10:g.101944396T>A , CM000675.1:g.101944396T>A GRCh37
NC_000013.9:g.100742397T>A NCBI36
NG_053176.1:g.130162A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251127.11:c.992A>T MANE Select ENSP00000251127.6:p.Gln331Leu
ENST00000648359.1:c.992A>T ENSP00000497465.1:p.Gln331Leu
ENST00000674840.1:n.1090A>T
ENST00000674904.1:n.1072A>T
ENST00000675150.1:c.992A>T ENSP00000502680.1:p.Gln331Leu
ENST00000675332.1:c.992A>T ENSP00000501955.1:p.Gln331Leu
ENST00000675415.1:n.1175A>T
ENST00000675594.1:c.*429A>T ENSP00000502490.1:n.*429A>T
ENST00000675802.1:c.992A>T ENSP00000501818.1:p.Gln331Leu
ENST00000676315.1:c.992A>T ENSP00000501603.1:p.Gln331Leu
ENST00000676439.1:n.1166A>T
ENST00000251127.10:c.992A>T ENSP00000251127.6:p.Gln331Leu
ENST00000470333.1:n.1088A>T
ENST00000497170.5:n.1146A>T
NM_052867.2:c.992A>T NP_443099.1:p.Gln331Leu
XM_011521067.1:c.1049A>T XP_011519369.1:p.Gln350Leu
XM_011521068.1:c.992A>T XP_011519370.1:p.Gln331Leu
XM_011521069.1:c.1049A>T XP_011519371.1:p.Gln350Leu
XM_011521070.1:c.1049A>T XP_011519372.1:p.Gln350Leu
NM_001350748.1:c.992A>T NP_001337677.1:p.Gln331Leu
NM_001350749.1:c.992A>T NP_001337678.1:p.Gln331Leu
NM_001350750.1:c.992A>T NP_001337679.1:p.Gln331Leu
NM_001350751.1:c.992A>T NP_001337680.1:p.Gln331Leu
NM_052867.3:c.992A>T NP_443099.1:p.Gln331Leu
XM_011521067.2:c.1049A>T XP_011519369.1:p.Gln350Leu
XM_011521069.2:c.1049A>T XP_011519371.1:p.Gln350Leu
XM_017020536.2:c.545A>T XP_016876025.1:p.Gln182Leu
XM_017020537.1:c.227A>T XP_016876026.1:p.Gln76Leu
XM_024449336.1:c.1049A>T XP_024305104.1:p.Gln350Leu
NM_052867.4:c.992A>T MANE Select NP_443099.1:p.Gln331Leu
NM_001350748.2:c.992A>T NP_001337677.1:p.Gln331Leu
NM_001350749.2:c.992A>T NP_001337678.1:p.Gln331Leu
NM_001350750.2:c.992A>T NP_001337679.1:p.Gln331Leu
NM_001350751.2:c.992A>T NP_001337680.1:p.Gln331Leu