Canonical Allele Identifier: CA388705524

Gene: NALCN

Linked Data

• COSMIC: COSM5823936 ; COSM5823937
• MyVariant Identifiers: chr13:g.102029174G>T (hg19) ; chr13:g.101376823G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101376823G>T , CM000675.2:g.101376823G>T	GRCh38
NC_000013.10:g.102029174G>T , CM000675.1:g.102029174G>T	GRCh37
NC_000013.9:g.100827175G>T	NCBI36
NG_053176.1:g.45384C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.521C>A MANE Select	ENSP00000251127.6:p.Ser174Ter
ENST00000376200.6:c.521C>A	ENSP00000365373.5:p.Ser174Ter
ENST00000648359.1:c.521C>A	ENSP00000497465.1:p.Ser174Ter
ENST00000674840.1:n.619C>A
ENST00000674904.1:n.601C>A
ENST00000675150.1:c.521C>A	ENSP00000502680.1:p.Ser174Ter
ENST00000675332.1:c.521C>A	ENSP00000501955.1:p.Ser174Ter
ENST00000675415.1:n.704C>A
ENST00000675594.1:c.521C>A	ENSP00000502490.1:p.Ser174Ter
ENST00000675802.1:c.521C>A	ENSP00000501818.1:p.Ser174Ter
ENST00000676315.1:c.521C>A	ENSP00000501603.1:p.Ser174Ter
ENST00000676357.1:n.741C>A
ENST00000676439.1:n.695C>A
ENST00000251127.10:c.521C>A	ENSP00000251127.6:p.Ser174Ter
ENST00000376200.5:c.521C>A	ENSP00000365373.5:p.Ser174Ter
ENST00000470333.1:n.617C>A
ENST00000497170.5:n.710C>A
NM_052867.2:c.521C>A	NP_443099.1:p.Ser174Ter
XM_011521067.1:c.578C>A	XP_011519369.1:p.Ser193Ter
XM_011521068.1:c.521C>A	XP_011519370.1:p.Ser174Ter
XM_011521069.1:c.578C>A	XP_011519371.1:p.Ser193Ter
XM_011521070.1:c.578C>A	XP_011519372.1:p.Ser193Ter
NM_001350748.1:c.521C>A	NP_001337677.1:p.Ser174Ter
NM_001350749.1:c.521C>A	NP_001337678.1:p.Ser174Ter
NM_001350750.1:c.521C>A	NP_001337679.1:p.Ser174Ter
NM_001350751.1:c.521C>A	NP_001337680.1:p.Ser174Ter
NM_052867.3:c.521C>A	NP_443099.1:p.Ser174Ter
XM_011521067.2:c.578C>A	XP_011519369.1:p.Ser193Ter
XM_011521069.2:c.578C>A	XP_011519371.1:p.Ser193Ter
XM_024449336.1:c.578C>A	XP_024305104.1:p.Ser193Ter
NM_052867.4:c.521C>A MANE Select	NP_443099.1:p.Ser174Ter
NM_001350748.2:c.521C>A	NP_001337677.1:p.Ser174Ter
NM_001350749.2:c.521C>A	NP_001337678.1:p.Ser174Ter
NM_001350750.2:c.521C>A	NP_001337679.1:p.Ser174Ter
NM_001350751.2:c.521C>A	NP_001337680.1:p.Ser174Ter