Canonical Allele Identifier: CA388650312

Gene: NALCN

Linked Data

• gnomAD v4: 13-101081588-C-T
• COSMIC: COSM5513005
• MyVariant Identifiers: chr13:g.101733939C>T (hg19) ; chr13:g.101081588C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081588C>T , CM000675.2:g.101081588C>T	GRCh38
NC_000013.10:g.101733939C>T , CM000675.1:g.101733939C>T	GRCh37
NC_000013.9:g.100531940C>T	NCBI36
NG_053176.1:g.340619G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3824G>A MANE Select	ENSP00000251127.6:p.Arg1275Gln
ENST00000648359.1:c.3824G>A	ENSP00000497465.1:p.Arg1275Gln
ENST00000675150.1:c.3545G>A	ENSP00000502680.1:p.Arg1182Gln
ENST00000675332.1:c.3911G>A	ENSP00000501955.1:p.Arg1304Gln
ENST00000676315.1:c.3737G>A	ENSP00000501603.1:p.Arg1246Gln
ENST00000251127.10:c.3824G>A	ENSP00000251127.6:p.Arg1275Gln
NM_052867.2:c.3824G>A	NP_443099.1:p.Arg1275Gln
XM_011521067.1:c.3881G>A	XP_011519369.1:p.Arg1294Gln
XM_011521068.1:c.3824G>A	XP_011519370.1:p.Arg1275Gln
XM_011521069.1:c.3794G>A	XP_011519371.1:p.Arg1265Gln
XM_011521070.1:c.3602G>A	XP_011519372.1:p.Arg1201Gln
NM_001350748.1:c.3911G>A	NP_001337677.1:p.Arg1304Gln
NM_001350749.1:c.3824G>A	NP_001337678.1:p.Arg1275Gln
NM_001350750.1:c.3737G>A	NP_001337679.1:p.Arg1246Gln
NM_001350751.1:c.3737G>A	NP_001337680.1:p.Arg1246Gln
NM_052867.3:c.3824G>A	NP_443099.1:p.Arg1275Gln
XM_011521067.2:c.3881G>A	XP_011519369.1:p.Arg1294Gln
XM_011521069.2:c.3794G>A	XP_011519371.1:p.Arg1265Gln
XM_017020536.2:c.3377G>A	XP_016876025.1:p.Arg1126Gln
XM_017020537.1:c.3059G>A	XP_016876026.1:p.Arg1020Gln
XM_024449336.1:c.3968G>A	XP_024305104.1:p.Arg1323Gln
NM_052867.4:c.3824G>A MANE Select	NP_443099.1:p.Arg1275Gln
NM_001350748.2:c.3911G>A	NP_001337677.1:p.Arg1304Gln
NM_001350749.2:c.3824G>A	NP_001337678.1:p.Arg1275Gln
NM_001350750.2:c.3737G>A	NP_001337679.1:p.Arg1246Gln
NM_001350751.2:c.3737G>A	NP_001337680.1:p.Arg1246Gln