Canonical Allele Identifier: CA388702972
Community Standard Title: NM_052867.4(NALCN):c.1434+1G>A
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101237754C>T , CM000675.2:g.101237754C>T GRCh38
NC_000013.10:g.101890105C>T , CM000675.1:g.101890105C>T GRCh37
NC_000013.9:g.100688106C>T NCBI36
NG_053176.1:g.184453G>A

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.1434+1G>A MANE Select NP_443099.1:n.1434+1G>A
ENST00000251127.11:c.1434+1G>A MANE Select ENSP00000251127.6:n.1434+1G>A
NM_001350748.1:c.1434+1G>A NP_001337677.1:n.1434+1G>A
NM_001350748.2:c.1434+1G>A NP_001337677.1:n.1434+1G>A
NM_001350749.1:c.1434+1G>A NP_001337678.1:n.1434+1G>A
NM_001350749.2:c.1434+1G>A NP_001337678.1:n.1434+1G>A
NM_001350750.1:c.1347+1G>A NP_001337679.1:n.1347+1G>A
NM_001350750.2:c.1347+1G>A NP_001337679.1:n.1347+1G>A
NM_001350751.1:c.1347+1G>A NP_001337680.1:n.1347+1G>A
NM_001350751.2:c.1347+1G>A NP_001337680.1:n.1347+1G>A
NM_052867.2:c.1434+1G>A NP_443099.1:n.1434+1G>A
NM_052867.3:c.1434+1G>A NP_443099.1:n.1434+1G>A
ENST00000251127.10:c.1434+1G>A ENSP00000251127.6:n.1434+1G>A
ENST00000470333.1:n.1530+1G>A
ENST00000497170.5:n.1588+1G>A
ENST00000648359.1:c.1434+1G>A ENSP00000497465.1:n.1434+1G>A
ENST00000674840.1:n.1532+1G>A
ENST00000674904.1:n.1514+1G>A
ENST00000675150.1:c.1434+1G>A ENSP00000502680.1:n.1434+1G>A
ENST00000675332.1:c.1434+1G>A ENSP00000501955.1:n.1434+1G>A
ENST00000675594.1:c.*871+1G>A ENSP00000502490.1:n.*871+1G>A
ENST00000675802.1:c.1434+1G>A ENSP00000501818.1:n.1434+1G>A
ENST00000676315.1:c.1347+1G>A ENSP00000501603.1:n.1347+1G>A
ENST00000676439.1:n.1608+1G>A
XM_011521067.1:c.1491+1G>A XP_011519369.1:n.1491+1G>A
XM_011521067.2:c.1491+1G>A XP_011519369.1:n.1491+1G>A
XM_011521068.1:c.1434+1G>A XP_011519370.1:n.1434+1G>A
XM_011521069.1:c.1404+1G>A XP_011519371.1:n.1404+1G>A
XM_011521069.2:c.1404+1G>A XP_011519371.1:n.1404+1G>A
XM_011521070.1:c.1491+1G>A XP_011519372.1:n.1491+1G>A
XM_017020536.2:c.987+1G>A XP_016876025.1:n.987+1G>A
XM_017020537.1:c.669+1G>A XP_016876026.1:n.669+1G>A
XM_024449336.1:c.1491+1G>A XP_024305104.1:n.1491+1G>A