Canonical Allele Identifier: CA7035772
Community Standard Title: NM_052867.4(NALCN):c.2266G>A (p.Val756Met)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101111153C>T , CM000675.2:g.101111153C>T GRCh38
NC_000013.10:g.101763504C>T , CM000675.1:g.101763504C>T GRCh37
NC_000013.9:g.100561505C>T NCBI36
NG_053176.1:g.311054G>A

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.2266G>A MANE Select NP_443099.1:p.Val756Met
ENST00000251127.11:c.2266G>A MANE Select ENSP00000251127.6:p.Val756Met
NM_001350748.1:c.2353G>A NP_001337677.1:p.Val785Met
NM_001350748.2:c.2353G>A NP_001337677.1:p.Val785Met
NM_001350749.1:c.2266G>A NP_001337678.1:p.Val756Met
NM_001350749.2:c.2266G>A NP_001337678.1:p.Val756Met
NM_001350750.1:c.2179G>A NP_001337679.1:p.Val727Met
NM_001350750.2:c.2179G>A NP_001337679.1:p.Val727Met
NM_001350751.1:c.2179G>A NP_001337680.1:p.Val727Met
NM_001350751.2:c.2179G>A NP_001337680.1:p.Val727Met
NM_052867.2:c.2266G>A NP_443099.1:p.Val756Met
NM_052867.3:c.2266G>A NP_443099.1:p.Val756Met
ENST00000251127.10:c.2266G>A ENSP00000251127.6:p.Val756Met
ENST00000648359.1:c.2266G>A ENSP00000497465.1:p.Val756Met
ENST00000675150.1:c.1987G>A ENSP00000502680.1:p.Val663Met
ENST00000675332.1:c.2353G>A ENSP00000501955.1:p.Val785Met
ENST00000676315.1:c.2179G>A ENSP00000501603.1:p.Val727Met
XM_011521067.1:c.2323G>A XP_011519369.1:p.Val775Met
XM_011521067.2:c.2323G>A XP_011519369.1:p.Val775Met
XM_011521068.1:c.2266G>A XP_011519370.1:p.Val756Met
XM_011521069.1:c.2236G>A XP_011519371.1:p.Val746Met
XM_011521069.2:c.2236G>A XP_011519371.1:p.Val746Met
XM_011521070.1:c.2044G>A XP_011519372.1:p.Val682Met
XM_017020536.2:c.1819G>A XP_016876025.1:p.Val607Met
XM_017020537.1:c.1501G>A XP_016876026.1:p.Val501Met
XM_024449336.1:c.2410G>A XP_024305104.1:p.Val804Met