Canonical Allele Identifier: CA388704681
Gene: NALCN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101292018C>A , CM000675.2:g.101292018C>A GRCh38
NC_000013.10:g.101944369C>A , CM000675.1:g.101944369C>A GRCh37
NC_000013.9:g.100742370C>A NCBI36
NG_053176.1:g.130189G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251127.11:c.1019G>T MANE Select ENSP00000251127.6:p.Ser340Ile
ENST00000648359.1:c.1019G>T ENSP00000497465.1:p.Ser340Ile
ENST00000674840.1:n.1117G>T
ENST00000674904.1:n.1099G>T
ENST00000675150.1:c.1019G>T ENSP00000502680.1:p.Ser340Ile
ENST00000675332.1:c.1019G>T ENSP00000501955.1:p.Ser340Ile
ENST00000675415.1:n.1202G>T
ENST00000675594.1:c.*456G>T ENSP00000502490.1:n.*456G>T
ENST00000675802.1:c.1019G>T ENSP00000501818.1:p.Ser340Ile
ENST00000676315.1:c.1019G>T ENSP00000501603.1:p.Ser340Ile
ENST00000676439.1:n.1193G>T
ENST00000251127.10:c.1019G>T ENSP00000251127.6:p.Ser340Ile
ENST00000470333.1:n.1115G>T
ENST00000497170.5:n.1173G>T
NM_052867.2:c.1019G>T NP_443099.1:p.Ser340Ile
XM_011521067.1:c.1076G>T XP_011519369.1:p.Ser359Ile
XM_011521068.1:c.1019G>T XP_011519370.1:p.Ser340Ile
XM_011521069.1:c.1076G>T XP_011519371.1:p.Ser359Ile
XM_011521070.1:c.1076G>T XP_011519372.1:p.Ser359Ile
NM_001350748.1:c.1019G>T NP_001337677.1:p.Ser340Ile
NM_001350749.1:c.1019G>T NP_001337678.1:p.Ser340Ile
NM_001350750.1:c.1019G>T NP_001337679.1:p.Ser340Ile
NM_001350751.1:c.1019G>T NP_001337680.1:p.Ser340Ile
NM_052867.3:c.1019G>T NP_443099.1:p.Ser340Ile
XM_011521067.2:c.1076G>T XP_011519369.1:p.Ser359Ile
XM_011521069.2:c.1076G>T XP_011519371.1:p.Ser359Ile
XM_017020536.2:c.572G>T XP_016876025.1:p.Ser191Ile
XM_017020537.1:c.254G>T XP_016876026.1:p.Ser85Ile
XM_024449336.1:c.1076G>T XP_024305104.1:p.Ser359Ile
NM_052867.4:c.1019G>T MANE Select NP_443099.1:p.Ser340Ile
NM_001350748.2:c.1019G>T NP_001337677.1:p.Ser340Ile
NM_001350749.2:c.1019G>T NP_001337678.1:p.Ser340Ile
NM_001350750.2:c.1019G>T NP_001337679.1:p.Ser340Ile
NM_001350751.2:c.1019G>T NP_001337680.1:p.Ser340Ile