Canonical Allele Identifier: CA388654915

Gene: NALCN

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101100888C>T , CM000675.2:g.101100888C>T	GRCh38
NC_000013.10:g.101753239C>T , CM000675.1:g.101753239C>T	GRCh37
NC_000013.9:g.100551240C>T	NCBI36
NG_053176.1:g.321319G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_052867.4:c.3058G>A MANE Select	NP_443099.1:p.Val1020Ile
ENST00000251127.11:c.3058G>A MANE Select	ENSP00000251127.6:p.Val1020Ile
NM_001350748.1:c.3145G>A	NP_001337677.1:p.Val1049Ile
NM_001350748.2:c.3145G>A	NP_001337677.1:p.Val1049Ile
NM_001350749.1:c.3058G>A	NP_001337678.1:p.Val1020Ile
NM_001350749.2:c.3058G>A	NP_001337678.1:p.Val1020Ile
NM_001350750.1:c.2971G>A	NP_001337679.1:p.Val991Ile
NM_001350750.2:c.2971G>A	NP_001337679.1:p.Val991Ile
NM_001350751.1:c.2971G>A	NP_001337680.1:p.Val991Ile
NM_001350751.2:c.2971G>A	NP_001337680.1:p.Val991Ile
NM_052867.2:c.3058G>A	NP_443099.1:p.Val1020Ile
NM_052867.3:c.3058G>A	NP_443099.1:p.Val1020Ile
ENST00000251127.10:c.3058G>A	ENSP00000251127.6:p.Val1020Ile
ENST00000648359.1:c.3058G>A	ENSP00000497465.1:p.Val1020Ile
ENST00000675150.1:c.2779G>A	ENSP00000502680.1:p.Val927Ile
ENST00000675332.1:c.3145G>A	ENSP00000501955.1:p.Val1049Ile
ENST00000676315.1:c.2971G>A	ENSP00000501603.1:p.Val991Ile
XM_011521067.1:c.3115G>A	XP_011519369.1:p.Val1039Ile
XM_011521067.2:c.3115G>A	XP_011519369.1:p.Val1039Ile
XM_011521068.1:c.3058G>A	XP_011519370.1:p.Val1020Ile
XM_011521069.1:c.3028G>A	XP_011519371.1:p.Val1010Ile
XM_011521069.2:c.3028G>A	XP_011519371.1:p.Val1010Ile
XM_011521070.1:c.2836G>A	XP_011519372.1:p.Val946Ile
XM_017020536.2:c.2611G>A	XP_016876025.1:p.Val871Ile
XM_017020537.1:c.2293G>A	XP_016876026.1:p.Val765Ile
XM_024449336.1:c.3202G>A	XP_024305104.1:p.Val1068Ile