Canonical Allele Identifier: CA255408556

Gene: NALCN

Linked Data

• ClinVar Variation Id: 2778414
• ClinVar RCV Id: RCV003661465
• dbSNP Id: rs751434431
• gnomAD v4: 13-101083753-G-A
• COSMIC: COSM2047833
• MyVariant Identifiers: chr13:g.101736104G>A (hg19) ; chr13:g.101083753G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101083753G>A , CM000675.2:g.101083753G>A	GRCh38
NC_000013.10:g.101736104G>A , CM000675.1:g.101736104G>A	GRCh37
NC_000013.9:g.100534105G>A	NCBI36
NG_053176.1:g.338454C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.3541C>T MANE Select	ENSP00000251127.6:p.Arg1181Ter
ENST00000648359.1:c.3541C>T	ENSP00000497465.1:p.Arg1181Ter
ENST00000675150.1:c.3262C>T	ENSP00000502680.1:p.Arg1088Ter
ENST00000675332.1:c.3628C>T	ENSP00000501955.1:p.Arg1210Ter
ENST00000676315.1:c.3454C>T	ENSP00000501603.1:p.Arg1152Ter
ENST00000251127.10:c.3541C>T	ENSP00000251127.6:p.Arg1181Ter
NM_052867.2:c.3541C>T	NP_443099.1:p.Arg1181Ter
XM_011521067.1:c.3598C>T	XP_011519369.1:p.Arg1200Ter
XM_011521068.1:c.3541C>T	XP_011519370.1:p.Arg1181Ter
XM_011521069.1:c.3511C>T	XP_011519371.1:p.Arg1171Ter
XM_011521070.1:c.3319C>T	XP_011519372.1:p.Arg1107Ter
NM_001350748.1:c.3628C>T	NP_001337677.1:p.Arg1210Ter
NM_001350749.1:c.3541C>T	NP_001337678.1:p.Arg1181Ter
NM_001350750.1:c.3454C>T	NP_001337679.1:p.Arg1152Ter
NM_001350751.1:c.3454C>T	NP_001337680.1:p.Arg1152Ter
NM_052867.3:c.3541C>T	NP_443099.1:p.Arg1181Ter
XM_011521067.2:c.3598C>T	XP_011519369.1:p.Arg1200Ter
XM_011521069.2:c.3511C>T	XP_011519371.1:p.Arg1171Ter
XM_017020536.2:c.3094C>T	XP_016876025.1:p.Arg1032Ter
XM_017020537.1:c.2776C>T	XP_016876026.1:p.Arg926Ter
XM_024449336.1:c.3685C>T	XP_024305104.1:p.Arg1229Ter
NM_052867.4:c.3541C>T MANE Select	NP_443099.1:p.Arg1181Ter
NM_001350748.2:c.3628C>T	NP_001337677.1:p.Arg1210Ter
NM_001350749.2:c.3541C>T	NP_001337678.1:p.Arg1181Ter
NM_001350750.2:c.3454C>T	NP_001337679.1:p.Arg1152Ter
NM_001350751.2:c.3454C>T	NP_001337680.1:p.Arg1152Ter