Canonical Allele Identifier: CA10581448
Gene: NALCN HGNC NCBI

Linked Data

ClinVar Variation Id: 235837
ClinVar RCV Id: RCV000224612
dbSNP Id: rs878853134

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101292232G>T , CM000675.2:g.101292232G>T GRCh38
NC_000013.10:g.101944583G>T , CM000675.1:g.101944583G>T GRCh37
NC_000013.9:g.100742584G>T NCBI36
NG_053176.1:g.129975C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251127.11:c.934C>A MANE Select ENSP00000251127.6:p.Leu312Ile
ENST00000648359.1:c.934C>A ENSP00000497465.1:p.Leu312Ile
ENST00000674840.1:n.1032C>A
ENST00000674904.1:n.1014C>A
ENST00000675075.1:n.536C>A
ENST00000675150.1:c.934C>A ENSP00000502680.1:p.Leu312Ile
ENST00000675332.1:c.934C>A ENSP00000501955.1:p.Leu312Ile
ENST00000675415.1:n.1117C>A
ENST00000675594.1:c.*371C>A ENSP00000502490.1:n.*371C>A
ENST00000675802.1:c.934C>A ENSP00000501818.1:p.Leu312Ile
ENST00000676315.1:c.934C>A ENSP00000501603.1:p.Leu312Ile
ENST00000676439.1:n.1108C>A
ENST00000251127.10:c.934C>A ENSP00000251127.6:p.Leu312Ile
ENST00000470333.1:n.1030C>A
ENST00000497170.5:n.1088C>A
NM_052867.2:c.934C>A NP_443099.1:p.Leu312Ile
XM_011521067.1:c.991C>A XP_011519369.1:p.Leu331Ile
XM_011521068.1:c.934C>A XP_011519370.1:p.Leu312Ile
XM_011521069.1:c.991C>A XP_011519371.1:p.Leu331Ile
XM_011521070.1:c.991C>A XP_011519372.1:p.Leu331Ile
NM_001350748.1:c.934C>A NP_001337677.1:p.Leu312Ile
NM_001350749.1:c.934C>A NP_001337678.1:p.Leu312Ile
NM_001350750.1:c.934C>A NP_001337679.1:p.Leu312Ile
NM_001350751.1:c.934C>A NP_001337680.1:p.Leu312Ile
NM_052867.3:c.934C>A NP_443099.1:p.Leu312Ile
XM_011521067.2:c.991C>A XP_011519369.1:p.Leu331Ile
XM_011521069.2:c.991C>A XP_011519371.1:p.Leu331Ile
XM_017020536.2:c.487C>A XP_016876025.1:p.Leu163Ile
XM_017020537.1:c.169C>A XP_016876026.1:p.Leu57Ile
XM_024449336.1:c.991C>A XP_024305104.1:p.Leu331Ile
NM_052867.4:c.934C>A MANE Select NP_443099.1:p.Leu312Ile
NM_001350748.2:c.934C>A NP_001337677.1:p.Leu312Ile
NM_001350749.2:c.934C>A NP_001337678.1:p.Leu312Ile
NM_001350750.2:c.934C>A NP_001337679.1:p.Leu312Ile
NM_001350751.2:c.934C>A NP_001337680.1:p.Leu312Ile