Canonical Allele Identifier: CA7035749
Community Standard Title: NM_052867.4(NALCN):c.2307T>G (p.His769Gln)
Gene: NALCN HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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