Canonical Allele Identifier: CA388647244

Gene: NALCN

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101068746A>G , CM000675.2:g.101068746A>G	GRCh38
NC_000013.10:g.101721098A>G , CM000675.1:g.101721098A>G	GRCh37
NC_000013.9:g.100519099A>G	NCBI36
NG_053176.1:g.353461T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_052867.4:c.4279T>C MANE Select	NP_443099.1:p.Phe1427Leu
ENST00000251127.11:c.4279T>C MANE Select	ENSP00000251127.6:p.Phe1427Leu
NM_001350748.1:c.4366T>C	NP_001337677.1:p.Phe1456Leu
NM_001350748.2:c.4366T>C	NP_001337677.1:p.Phe1456Leu
NM_001350749.1:c.4279T>C	NP_001337678.1:p.Phe1427Leu
NM_001350749.2:c.4279T>C	NP_001337678.1:p.Phe1427Leu
NM_001350750.1:c.4192T>C	NP_001337679.1:p.Phe1398Leu
NM_001350750.2:c.4192T>C	NP_001337679.1:p.Phe1398Leu
NM_001350751.1:c.4192T>C	NP_001337680.1:p.Phe1398Leu
NM_001350751.2:c.4192T>C	NP_001337680.1:p.Phe1398Leu
NM_052867.2:c.4279T>C	NP_443099.1:p.Phe1427Leu
NM_052867.3:c.4279T>C	NP_443099.1:p.Phe1427Leu
ENST00000251127.10:c.4279T>C	ENSP00000251127.6:p.Phe1427Leu
ENST00000648359.1:c.4279T>C	ENSP00000497465.1:p.Phe1427Leu
ENST00000675150.1:c.4000T>C	ENSP00000502680.1:p.Phe1334Leu
ENST00000675332.1:c.4366T>C	ENSP00000501955.1:p.Phe1456Leu
ENST00000676315.1:c.4192T>C	ENSP00000501603.1:p.Phe1398Leu
XM_011521067.1:c.4336T>C	XP_011519369.1:p.Phe1446Leu
XM_011521067.2:c.4336T>C	XP_011519369.1:p.Phe1446Leu
XM_011521068.1:c.4279T>C	XP_011519370.1:p.Phe1427Leu
XM_011521069.1:c.4249T>C	XP_011519371.1:p.Phe1417Leu
XM_011521069.2:c.4249T>C	XP_011519371.1:p.Phe1417Leu
XM_011521070.1:c.4057T>C	XP_011519372.1:p.Phe1353Leu
XM_017020536.2:c.3832T>C	XP_016876025.1:p.Phe1278Leu
XM_017020537.1:c.3514T>C	XP_016876026.1:p.Phe1172Leu
XM_024449336.1:c.4423T>C	XP_024305104.1:p.Phe1475Leu