Canonical Allele Identifier: CA388705148

Gene: NALCN

Linked Data

• ClinVar Variation Id: 1921742
• ClinVar RCV Id: RCV002613261
• dbSNP Id: rs2043585499
• MyVariant Identifiers: chr13:g.101944694C>T (hg19) ; chr13:g.101292343C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101292343C>T , CM000675.2:g.101292343C>T	GRCh38
NC_000013.10:g.101944694C>T , CM000675.1:g.101944694C>T	GRCh37
NC_000013.9:g.100742695C>T	NCBI36
NG_053176.1:g.129864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.823G>A MANE Select	ENSP00000251127.6:p.Glu275Lys
ENST00000648359.1:c.823G>A	ENSP00000497465.1:p.Glu275Lys
ENST00000674840.1:n.921G>A
ENST00000674904.1:n.903G>A
ENST00000675075.1:n.425G>A
ENST00000675150.1:c.823G>A	ENSP00000502680.1:p.Glu275Lys
ENST00000675332.1:c.823G>A	ENSP00000501955.1:p.Glu275Lys
ENST00000675415.1:n.1006G>A
ENST00000675594.1:c.*260G>A	ENSP00000502490.1:n.*260G>A
ENST00000675802.1:c.823G>A	ENSP00000501818.1:p.Glu275Lys
ENST00000676315.1:c.823G>A	ENSP00000501603.1:p.Glu275Lys
ENST00000676439.1:n.997G>A
ENST00000251127.10:c.823G>A	ENSP00000251127.6:p.Glu275Lys
ENST00000470333.1:n.919G>A
ENST00000497170.5:n.977G>A
NM_052867.2:c.823G>A	NP_443099.1:p.Glu275Lys
XM_011521067.1:c.880G>A	XP_011519369.1:p.Glu294Lys
XM_011521068.1:c.823G>A	XP_011519370.1:p.Glu275Lys
XM_011521069.1:c.880G>A	XP_011519371.1:p.Glu294Lys
XM_011521070.1:c.880G>A	XP_011519372.1:p.Glu294Lys
NM_001350748.1:c.823G>A	NP_001337677.1:p.Glu275Lys
NM_001350749.1:c.823G>A	NP_001337678.1:p.Glu275Lys
NM_001350750.1:c.823G>A	NP_001337679.1:p.Glu275Lys
NM_001350751.1:c.823G>A	NP_001337680.1:p.Glu275Lys
NM_052867.3:c.823G>A	NP_443099.1:p.Glu275Lys
XM_011521067.2:c.880G>A	XP_011519369.1:p.Glu294Lys
XM_011521069.2:c.880G>A	XP_011519371.1:p.Glu294Lys
XM_017020536.2:c.376G>A	XP_016876025.1:p.Glu126Lys
XM_017020537.1:c.58G>A	XP_016876026.1:p.Glu20Lys
XM_024449336.1:c.880G>A	XP_024305104.1:p.Glu294Lys
NM_052867.4:c.823G>A MANE Select	NP_443099.1:p.Glu275Lys
NM_001350748.2:c.823G>A	NP_001337677.1:p.Glu275Lys
NM_001350749.2:c.823G>A	NP_001337678.1:p.Glu275Lys
NM_001350750.2:c.823G>A	NP_001337679.1:p.Glu275Lys
NM_001350751.2:c.823G>A	NP_001337680.1:p.Glu275Lys