Canonical Allele Identifier: CA388650145
Gene: NALCN HGNC NCBI

Linked Data

dbSNP Id: rs1304060734

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101081537A>G , CM000675.2:g.101081537A>G GRCh38
NC_000013.10:g.101733888A>G , CM000675.1:g.101733888A>G GRCh37
NC_000013.9:g.100531889A>G NCBI36
NG_053176.1:g.340670T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251127.11:c.3875T>C MANE Select ENSP00000251127.6:p.Phe1292Ser
ENST00000648359.1:c.3875T>C ENSP00000497465.1:p.Phe1292Ser
ENST00000675150.1:c.3596T>C ENSP00000502680.1:p.Phe1199Ser
ENST00000675332.1:c.3962T>C ENSP00000501955.1:p.Phe1321Ser
ENST00000676315.1:c.3788T>C ENSP00000501603.1:p.Phe1263Ser
ENST00000251127.10:c.3875T>C ENSP00000251127.6:p.Phe1292Ser
NM_052867.2:c.3875T>C NP_443099.1:p.Phe1292Ser
XM_011521067.1:c.3932T>C XP_011519369.1:p.Phe1311Ser
XM_011521068.1:c.3875T>C XP_011519370.1:p.Phe1292Ser
XM_011521069.1:c.3845T>C XP_011519371.1:p.Phe1282Ser
XM_011521070.1:c.3653T>C XP_011519372.1:p.Phe1218Ser
NM_001350748.1:c.3962T>C NP_001337677.1:p.Phe1321Ser
NM_001350749.1:c.3875T>C NP_001337678.1:p.Phe1292Ser
NM_001350750.1:c.3788T>C NP_001337679.1:p.Phe1263Ser
NM_001350751.1:c.3788T>C NP_001337680.1:p.Phe1263Ser
NM_052867.3:c.3875T>C NP_443099.1:p.Phe1292Ser
XM_011521067.2:c.3932T>C XP_011519369.1:p.Phe1311Ser
XM_011521069.2:c.3845T>C XP_011519371.1:p.Phe1282Ser
XM_017020536.2:c.3428T>C XP_016876025.1:p.Phe1143Ser
XM_017020537.1:c.3110T>C XP_016876026.1:p.Phe1037Ser
XM_024449336.1:c.4019T>C XP_024305104.1:p.Phe1340Ser
NM_052867.4:c.3875T>C MANE Select NP_443099.1:p.Phe1292Ser
NM_001350748.2:c.3962T>C NP_001337677.1:p.Phe1321Ser
NM_001350749.2:c.3875T>C NP_001337678.1:p.Phe1292Ser
NM_001350750.2:c.3788T>C NP_001337679.1:p.Phe1263Ser
NM_001350751.2:c.3788T>C NP_001337680.1:p.Phe1263Ser