Canonical Allele Identifier: CA388650458
Gene: NALCN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101081631T>A , CM000675.2:g.101081631T>A GRCh38
NC_000013.10:g.101733982T>A , CM000675.1:g.101733982T>A GRCh37
NC_000013.9:g.100531983T>A NCBI36
NG_053176.1:g.340576A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251127.11:c.3781A>T MANE Select ENSP00000251127.6:p.Ile1261Leu
ENST00000648359.1:c.3781A>T ENSP00000497465.1:p.Ile1261Leu
ENST00000675150.1:c.3502A>T ENSP00000502680.1:p.Ile1168Leu
ENST00000675332.1:c.3868A>T ENSP00000501955.1:p.Ile1290Leu
ENST00000676315.1:c.3694A>T ENSP00000501603.1:p.Ile1232Leu
ENST00000251127.10:c.3781A>T ENSP00000251127.6:p.Ile1261Leu
NM_052867.2:c.3781A>T NP_443099.1:p.Ile1261Leu
XM_011521067.1:c.3838A>T XP_011519369.1:p.Ile1280Leu
XM_011521068.1:c.3781A>T XP_011519370.1:p.Ile1261Leu
XM_011521069.1:c.3751A>T XP_011519371.1:p.Ile1251Leu
XM_011521070.1:c.3559A>T XP_011519372.1:p.Ile1187Leu
NM_001350748.1:c.3868A>T NP_001337677.1:p.Ile1290Leu
NM_001350749.1:c.3781A>T NP_001337678.1:p.Ile1261Leu
NM_001350750.1:c.3694A>T NP_001337679.1:p.Ile1232Leu
NM_001350751.1:c.3694A>T NP_001337680.1:p.Ile1232Leu
NM_052867.3:c.3781A>T NP_443099.1:p.Ile1261Leu
XM_011521067.2:c.3838A>T XP_011519369.1:p.Ile1280Leu
XM_011521069.2:c.3751A>T XP_011519371.1:p.Ile1251Leu
XM_017020536.2:c.3334A>T XP_016876025.1:p.Ile1112Leu
XM_017020537.1:c.3016A>T XP_016876026.1:p.Ile1006Leu
XM_024449336.1:c.3925A>T XP_024305104.1:p.Ile1309Leu
NM_052867.4:c.3781A>T MANE Select NP_443099.1:p.Ile1261Leu
NM_001350748.2:c.3868A>T NP_001337677.1:p.Ile1290Leu
NM_001350749.2:c.3781A>T NP_001337678.1:p.Ile1261Leu
NM_001350750.2:c.3694A>T NP_001337679.1:p.Ile1232Leu
NM_001350751.2:c.3694A>T NP_001337680.1:p.Ile1232Leu