Canonical Allele Identifier: CA145297
Gene: NALCN HGNC NCBI

Linked Data

ClinVar Variation Id: 88687
ClinVar RCV Id: RCV000074370
dbSNP Id: rs587777068

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101081552C>A , CM000675.2:g.101081552C>A GRCh38
NC_000013.10:g.101733903C>A , CM000675.1:g.101733903C>A GRCh37
NC_000013.9:g.100531904C>A NCBI36
NG_053176.1:g.340655G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251127.11:c.3860G>T MANE Select ENSP00000251127.6:p.Trp1287Leu
ENST00000648359.1:c.3860G>T ENSP00000497465.1:p.Trp1287Leu
ENST00000675150.1:c.3581G>T ENSP00000502680.1:p.Trp1194Leu
ENST00000675332.1:c.3947G>T ENSP00000501955.1:p.Trp1316Leu
ENST00000676315.1:c.3773G>T ENSP00000501603.1:p.Trp1258Leu
ENST00000251127.10:c.3860G>T ENSP00000251127.6:p.Trp1287Leu
NM_052867.2:c.3860G>T NP_443099.1:p.Trp1287Leu
XM_011521067.1:c.3917G>T XP_011519369.1:p.Trp1306Leu
XM_011521068.1:c.3860G>T XP_011519370.1:p.Trp1287Leu
XM_011521069.1:c.3830G>T XP_011519371.1:p.Trp1277Leu
XM_011521070.1:c.3638G>T XP_011519372.1:p.Trp1213Leu
NM_001350748.1:c.3947G>T NP_001337677.1:p.Trp1316Leu
NM_001350749.1:c.3860G>T NP_001337678.1:p.Trp1287Leu
NM_001350750.1:c.3773G>T NP_001337679.1:p.Trp1258Leu
NM_001350751.1:c.3773G>T NP_001337680.1:p.Trp1258Leu
NM_052867.3:c.3860G>T NP_443099.1:p.Trp1287Leu
XM_011521067.2:c.3917G>T XP_011519369.1:p.Trp1306Leu
XM_011521069.2:c.3830G>T XP_011519371.1:p.Trp1277Leu
XM_017020536.2:c.3413G>T XP_016876025.1:p.Trp1138Leu
XM_017020537.1:c.3095G>T XP_016876026.1:p.Trp1032Leu
XM_024449336.1:c.4004G>T XP_024305104.1:p.Trp1335Leu
NM_052867.4:c.3860G>T MANE Select NP_443099.1:p.Trp1287Leu
NM_001350748.2:c.3947G>T NP_001337677.1:p.Trp1316Leu
NM_001350749.2:c.3860G>T NP_001337678.1:p.Trp1287Leu
NM_001350750.2:c.3773G>T NP_001337679.1:p.Trp1258Leu
NM_001350751.2:c.3773G>T NP_001337680.1:p.Trp1258Leu