Canonical Allele Identifier: CA388705529

Gene: NALCN

Linked Data

• ClinVar Variation Id: 2578322
• ClinVar RCV Id: RCV003325921
• MyVariant Identifiers: chr13:g.102029177C>G (hg19) ; chr13:g.101376826C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101376826C>G , CM000675.2:g.101376826C>G	GRCh38
NC_000013.10:g.102029177C>G , CM000675.1:g.102029177C>G	GRCh37
NC_000013.9:g.100827178C>G	NCBI36
NG_053176.1:g.45381G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.518G>C MANE Select	ENSP00000251127.6:p.Arg173Pro
ENST00000376200.6:c.518G>C	ENSP00000365373.5:p.Arg173Pro
ENST00000648359.1:c.518G>C	ENSP00000497465.1:p.Arg173Pro
ENST00000674840.1:n.616G>C
ENST00000674904.1:n.598G>C
ENST00000675150.1:c.518G>C	ENSP00000502680.1:p.Arg173Pro
ENST00000675332.1:c.518G>C	ENSP00000501955.1:p.Arg173Pro
ENST00000675415.1:n.701G>C
ENST00000675594.1:c.518G>C	ENSP00000502490.1:p.Arg173Pro
ENST00000675802.1:c.518G>C	ENSP00000501818.1:p.Arg173Pro
ENST00000676315.1:c.518G>C	ENSP00000501603.1:p.Arg173Pro
ENST00000676357.1:n.738G>C
ENST00000676439.1:n.692G>C
ENST00000251127.10:c.518G>C	ENSP00000251127.6:p.Arg173Pro
ENST00000376200.5:c.518G>C	ENSP00000365373.5:p.Arg173Pro
ENST00000470333.1:n.614G>C
ENST00000497170.5:n.707G>C
NM_052867.2:c.518G>C	NP_443099.1:p.Arg173Pro
XM_011521067.1:c.575G>C	XP_011519369.1:p.Arg192Pro
XM_011521068.1:c.518G>C	XP_011519370.1:p.Arg173Pro
XM_011521069.1:c.575G>C	XP_011519371.1:p.Arg192Pro
XM_011521070.1:c.575G>C	XP_011519372.1:p.Arg192Pro
NM_001350748.1:c.518G>C	NP_001337677.1:p.Arg173Pro
NM_001350749.1:c.518G>C	NP_001337678.1:p.Arg173Pro
NM_001350750.1:c.518G>C	NP_001337679.1:p.Arg173Pro
NM_001350751.1:c.518G>C	NP_001337680.1:p.Arg173Pro
NM_052867.3:c.518G>C	NP_443099.1:p.Arg173Pro
XM_011521067.2:c.575G>C	XP_011519369.1:p.Arg192Pro
XM_011521069.2:c.575G>C	XP_011519371.1:p.Arg192Pro
XM_024449336.1:c.575G>C	XP_024305104.1:p.Arg192Pro
NM_052867.4:c.518G>C MANE Select	NP_443099.1:p.Arg173Pro
NM_001350748.2:c.518G>C	NP_001337677.1:p.Arg173Pro
NM_001350749.2:c.518G>C	NP_001337678.1:p.Arg173Pro
NM_001350750.2:c.518G>C	NP_001337679.1:p.Arg173Pro
NM_001350751.2:c.518G>C	NP_001337680.1:p.Arg173Pro