Canonical Allele Identifier: CA212642

Gene: NALCN

Linked Data

• ClinVar Variation Id: 188046
• ClinVar RCV Id: RCV000167764 ; RCV000224736 ; RCV001267339 ; RCV001390781
• dbSNP Id: rs786201003
• gnomAD v4: 13-101083752-C-T
• MyVariant Identifiers: chr13:g.101736103C>T (hg19) ; chr13:g.101083752C>T (hg38)
• PubMed: PMID:25683120 ; PMID:25864427

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101083752C>T , CM000675.2:g.101083752C>T	GRCh38
NC_000013.10:g.101736103C>T , CM000675.1:g.101736103C>T	GRCh37
NC_000013.9:g.100534104C>T	NCBI36
NG_053176.1:g.338455G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3542G>A MANE Select	ENSP00000251127.6:p.Arg1181Gln
ENST00000648359.1:c.3542G>A	ENSP00000497465.1:p.Arg1181Gln
ENST00000675150.1:c.3263G>A	ENSP00000502680.1:p.Arg1088Gln
ENST00000675332.1:c.3629G>A	ENSP00000501955.1:p.Arg1210Gln
ENST00000676315.1:c.3455G>A	ENSP00000501603.1:p.Arg1152Gln
ENST00000251127.10:c.3542G>A	ENSP00000251127.6:p.Arg1181Gln
NM_052867.2:c.3542G>A	NP_443099.1:p.Arg1181Gln
XM_011521067.1:c.3599G>A	XP_011519369.1:p.Arg1200Gln
XM_011521068.1:c.3542G>A	XP_011519370.1:p.Arg1181Gln
XM_011521069.1:c.3512G>A	XP_011519371.1:p.Arg1171Gln
XM_011521070.1:c.3320G>A	XP_011519372.1:p.Arg1107Gln
NM_001350748.1:c.3629G>A	NP_001337677.1:p.Arg1210Gln
NM_001350749.1:c.3542G>A	NP_001337678.1:p.Arg1181Gln
NM_001350750.1:c.3455G>A	NP_001337679.1:p.Arg1152Gln
NM_001350751.1:c.3455G>A	NP_001337680.1:p.Arg1152Gln
NM_052867.3:c.3542G>A	NP_443099.1:p.Arg1181Gln
XM_011521067.2:c.3599G>A	XP_011519369.1:p.Arg1200Gln
XM_011521069.2:c.3512G>A	XP_011519371.1:p.Arg1171Gln
XM_017020536.2:c.3095G>A	XP_016876025.1:p.Arg1032Gln
XM_017020537.1:c.2777G>A	XP_016876026.1:p.Arg926Gln
XM_024449336.1:c.3686G>A	XP_024305104.1:p.Arg1229Gln
NM_052867.4:c.3542G>A MANE Select	NP_443099.1:p.Arg1181Gln
NM_001350748.2:c.3629G>A	NP_001337677.1:p.Arg1210Gln
NM_001350749.2:c.3542G>A	NP_001337678.1:p.Arg1181Gln
NM_001350750.2:c.3455G>A	NP_001337679.1:p.Arg1152Gln
NM_001350751.2:c.3455G>A	NP_001337680.1:p.Arg1152Gln