Canonical Allele Identifier: CA388646809

Gene: NALCN

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101068031T>G , CM000675.2:g.101068031T>G	GRCh38
NC_000013.10:g.101720383T>G , CM000675.1:g.101720383T>G	GRCh37
NC_000013.9:g.100518384T>G	NCBI36
NG_053176.1:g.354176A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_052867.4:c.4333A>C MANE Select	NP_443099.1:p.Ile1445Leu
ENST00000251127.11:c.4333A>C MANE Select	ENSP00000251127.6:p.Ile1445Leu
NM_001350748.1:c.4420A>C	NP_001337677.1:p.Ile1474Leu
NM_001350748.2:c.4420A>C	NP_001337677.1:p.Ile1474Leu
NM_001350749.1:c.4333A>C	NP_001337678.1:p.Ile1445Leu
NM_001350749.2:c.4333A>C	NP_001337678.1:p.Ile1445Leu
NM_001350750.1:c.4246A>C	NP_001337679.1:p.Ile1416Leu
NM_001350750.2:c.4246A>C	NP_001337679.1:p.Ile1416Leu
NM_001350751.1:c.4246A>C	NP_001337680.1:p.Ile1416Leu
NM_001350751.2:c.4246A>C	NP_001337680.1:p.Ile1416Leu
NM_052867.2:c.4333A>C	NP_443099.1:p.Ile1445Leu
NM_052867.3:c.4333A>C	NP_443099.1:p.Ile1445Leu
ENST00000251127.10:c.4333A>C	ENSP00000251127.6:p.Ile1445Leu
ENST00000648359.1:c.4333A>C	ENSP00000497465.1:p.Ile1445Leu
ENST00000675150.1:c.4054A>C	ENSP00000502680.1:p.Ile1352Leu
ENST00000675332.1:c.4420A>C	ENSP00000501955.1:p.Ile1474Leu
ENST00000676315.1:c.4246A>C	ENSP00000501603.1:p.Ile1416Leu
XM_011521067.1:c.4390A>C	XP_011519369.1:p.Ile1464Leu
XM_011521067.2:c.4390A>C	XP_011519369.1:p.Ile1464Leu
XM_011521068.1:c.4333A>C	XP_011519370.1:p.Ile1445Leu
XM_011521069.1:c.4303A>C	XP_011519371.1:p.Ile1435Leu
XM_011521069.2:c.4303A>C	XP_011519371.1:p.Ile1435Leu
XM_011521070.1:c.4111A>C	XP_011519372.1:p.Ile1371Leu
XM_017020536.2:c.3886A>C	XP_016876025.1:p.Ile1296Leu
XM_017020537.1:c.3568A>C	XP_016876026.1:p.Ile1190Leu
XM_024449336.1:c.4477A>C	XP_024305104.1:p.Ile1493Leu