Canonical Allele Identifier: CA388670855
Community Standard Title: NM_052867.4(NALCN):c.2307T>A (p.His769Gln)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101110676A>T , CM000675.2:g.101110676A>T GRCh38
NC_000013.10:g.101763027A>T , CM000675.1:g.101763027A>T GRCh37
NC_000013.9:g.100561028A>T NCBI36
NG_053176.1:g.311531T>A

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.2307T>A MANE Select NP_443099.1:p.His769Gln
ENST00000251127.11:c.2307T>A MANE Select ENSP00000251127.6:p.His769Gln
NM_001350748.1:c.2394T>A NP_001337677.1:p.His798Gln
NM_001350748.2:c.2394T>A NP_001337677.1:p.His798Gln
NM_001350749.1:c.2307T>A NP_001337678.1:p.His769Gln
NM_001350749.2:c.2307T>A NP_001337678.1:p.His769Gln
NM_001350750.1:c.2220T>A NP_001337679.1:p.His740Gln
NM_001350750.2:c.2220T>A NP_001337679.1:p.His740Gln
NM_001350751.1:c.2220T>A NP_001337680.1:p.His740Gln
NM_001350751.2:c.2220T>A NP_001337680.1:p.His740Gln
NM_052867.2:c.2307T>A NP_443099.1:p.His769Gln
NM_052867.3:c.2307T>A NP_443099.1:p.His769Gln
ENST00000251127.10:c.2307T>A ENSP00000251127.6:p.His769Gln
ENST00000648359.1:c.2307T>A ENSP00000497465.1:p.His769Gln
ENST00000675150.1:c.2028T>A ENSP00000502680.1:p.His676Gln
ENST00000675332.1:c.2394T>A ENSP00000501955.1:p.His798Gln
ENST00000676315.1:c.2220T>A ENSP00000501603.1:p.His740Gln
XM_011521067.1:c.2364T>A XP_011519369.1:p.His788Gln
XM_011521067.2:c.2364T>A XP_011519369.1:p.His788Gln
XM_011521068.1:c.2307T>A XP_011519370.1:p.His769Gln
XM_011521069.1:c.2277T>A XP_011519371.1:p.His759Gln
XM_011521069.2:c.2277T>A XP_011519371.1:p.His759Gln
XM_011521070.1:c.2085T>A XP_011519372.1:p.His695Gln
XM_017020536.2:c.1860T>A XP_016876025.1:p.His620Gln
XM_017020537.1:c.1542T>A XP_016876026.1:p.His514Gln
XM_024449336.1:c.2451T>A XP_024305104.1:p.His817Gln