Canonical Allele Identifier: CA388649290
Gene: NALCN HGNC NCBI

Linked Data

ClinVar Variation Id: 684703
ClinVar RCV Id: RCV000845220
dbSNP Id: rs1594146891

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101074512A>G , CM000675.2:g.101074512A>G GRCh38
NC_000013.10:g.101726863A>G , CM000675.1:g.101726863A>G GRCh37
NC_000013.9:g.100524864A>G NCBI36
NG_053176.1:g.347695T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251127.11:c.4103+2T>C MANE Select ENSP00000251127.6:n.4103+2T>C
ENST00000648359.1:c.4103+2T>C ENSP00000497465.1:n.4103+2T>C
ENST00000675150.1:c.3824+2T>C ENSP00000502680.1:n.3824+2T>C
ENST00000675332.1:c.4190+2T>C ENSP00000501955.1:n.4190+2T>C
ENST00000676315.1:c.4016+2T>C ENSP00000501603.1:n.4016+2T>C
ENST00000251127.10:c.4103+2T>C ENSP00000251127.6:n.4103+2T>C
NM_052867.2:c.4103+2T>C NP_443099.1:n.4103+2T>C
XM_011521067.1:c.4160+2T>C XP_011519369.1:n.4160+2T>C
XM_011521068.1:c.4103+2T>C XP_011519370.1:n.4103+2T>C
XM_011521069.1:c.4073+2T>C XP_011519371.1:n.4073+2T>C
XM_011521070.1:c.3881+2T>C XP_011519372.1:n.3881+2T>C
NM_001350748.1:c.4190+2T>C NP_001337677.1:n.4190+2T>C
NM_001350749.1:c.4103+2T>C NP_001337678.1:n.4103+2T>C
NM_001350750.1:c.4016+2T>C NP_001337679.1:n.4016+2T>C
NM_001350751.1:c.4016+2T>C NP_001337680.1:n.4016+2T>C
NM_052867.3:c.4103+2T>C NP_443099.1:n.4103+2T>C
XM_011521067.2:c.4160+2T>C XP_011519369.1:n.4160+2T>C
XM_011521069.2:c.4073+2T>C XP_011519371.1:n.4073+2T>C
XM_017020536.2:c.3656+2T>C XP_016876025.1:n.3656+2T>C
XM_017020537.1:c.3338+2T>C XP_016876026.1:n.3338+2T>C
XM_024449336.1:c.4247+2T>C XP_024305104.1:n.4247+2T>C
NM_052867.4:c.4103+2T>C MANE Select NP_443099.1:n.4103+2T>C
NM_001350748.2:c.4190+2T>C NP_001337677.1:n.4190+2T>C
NM_001350749.2:c.4103+2T>C NP_001337678.1:n.4103+2T>C
NM_001350750.2:c.4016+2T>C NP_001337679.1:n.4016+2T>C
NM_001350751.2:c.4016+2T>C NP_001337680.1:n.4016+2T>C