Canonical Allele Identifier: CA7036310
Community Standard Title: NM_052867.4(NALCN):c.1115G>A (p.Arg372His)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101283952C>T , CM000675.2:g.101283952C>T GRCh38
NC_000013.10:g.101936303C>T , CM000675.1:g.101936303C>T GRCh37
NC_000013.9:g.100734304C>T NCBI36
NG_053176.1:g.138255G>A

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.1115G>A MANE Select NP_443099.1:p.Arg372His
ENST00000251127.11:c.1115G>A MANE Select ENSP00000251127.6:p.Arg372His
NM_001350748.1:c.1115G>A NP_001337677.1:p.Arg372His
NM_001350748.2:c.1115G>A NP_001337677.1:p.Arg372His
NM_001350749.1:c.1115G>A NP_001337678.1:p.Arg372His
NM_001350749.2:c.1115G>A NP_001337678.1:p.Arg372His
NM_001350750.1:c.1047+8038G>A NP_001337679.1:n.1047+8038G>A
NM_001350750.2:c.1047+8038G>A NP_001337679.1:n.1047+8038G>A
NM_001350751.1:c.1047+8038G>A NP_001337680.1:n.1047+8038G>A
NM_001350751.2:c.1047+8038G>A NP_001337680.1:n.1047+8038G>A
NM_052867.2:c.1115G>A NP_443099.1:p.Arg372His
NM_052867.3:c.1115G>A NP_443099.1:p.Arg372His
ENST00000251127.10:c.1115G>A ENSP00000251127.6:p.Arg372His
ENST00000470333.1:n.1211G>A
ENST00000497170.5:n.1269G>A
ENST00000648359.1:c.1115G>A ENSP00000497465.1:p.Arg372His
ENST00000674840.1:n.1213G>A
ENST00000674904.1:n.1195G>A
ENST00000675150.1:c.1115G>A ENSP00000502680.1:p.Arg372His
ENST00000675332.1:c.1115G>A ENSP00000501955.1:p.Arg372His
ENST00000675415.1:n.1298G>A
ENST00000675594.1:c.*552G>A ENSP00000502490.1:n.*552G>A
ENST00000675802.1:c.1115G>A ENSP00000501818.1:p.Arg372His
ENST00000676315.1:c.1047+8038G>A ENSP00000501603.1:n.1047+8038G>A
ENST00000676439.1:n.1289G>A
XM_011521067.1:c.1172G>A XP_011519369.1:p.Arg391His
XM_011521067.2:c.1172G>A XP_011519369.1:p.Arg391His
XM_011521068.1:c.1115G>A XP_011519370.1:p.Arg372His
XM_011521069.1:c.1104+8038G>A XP_011519371.1:n.1104+8038G>A
XM_011521069.2:c.1104+8038G>A XP_011519371.1:n.1104+8038G>A
XM_011521070.1:c.1172G>A XP_011519372.1:p.Arg391His
XM_017020536.2:c.668G>A XP_016876025.1:p.Arg223His
XM_017020537.1:c.350G>A XP_016876026.1:p.Arg117His
XM_024449336.1:c.1172G>A XP_024305104.1:p.Arg391His