Canonical Allele Identifier: CA7035288

Gene: NALCN

Linked Data

• dbSNP Id: rs569371758
• ExAC: 13:101733940 G / A
• gnomAD v2: 13-101733940-G-A
• gnomAD v3: 13-101081589-G-A
• gnomAD v4: 13-101081589-G-A
• COSMIC: COSM4705448
• MyVariant Identifiers: chr13:g.101733940G>A (hg19) ; chr13:g.101081589G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081589G>A , CM000675.2:g.101081589G>A	GRCh38
NC_000013.10:g.101733940G>A , CM000675.1:g.101733940G>A	GRCh37
NC_000013.9:g.100531941G>A	NCBI36
NG_053176.1:g.340618C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3823C>T MANE Select	ENSP00000251127.6:p.Arg1275Ter
ENST00000648359.1:c.3823C>T	ENSP00000497465.1:p.Arg1275Ter
ENST00000675150.1:c.3544C>T	ENSP00000502680.1:p.Arg1182Ter
ENST00000675332.1:c.3910C>T	ENSP00000501955.1:p.Arg1304Ter
ENST00000676315.1:c.3736C>T	ENSP00000501603.1:p.Arg1246Ter
ENST00000251127.10:c.3823C>T	ENSP00000251127.6:p.Arg1275Ter
NM_052867.2:c.3823C>T	NP_443099.1:p.Arg1275Ter
XM_011521067.1:c.3880C>T	XP_011519369.1:p.Arg1294Ter
XM_011521068.1:c.3823C>T	XP_011519370.1:p.Arg1275Ter
XM_011521069.1:c.3793C>T	XP_011519371.1:p.Arg1265Ter
XM_011521070.1:c.3601C>T	XP_011519372.1:p.Arg1201Ter
NM_001350748.1:c.3910C>T	NP_001337677.1:p.Arg1304Ter
NM_001350749.1:c.3823C>T	NP_001337678.1:p.Arg1275Ter
NM_001350750.1:c.3736C>T	NP_001337679.1:p.Arg1246Ter
NM_001350751.1:c.3736C>T	NP_001337680.1:p.Arg1246Ter
NM_052867.3:c.3823C>T	NP_443099.1:p.Arg1275Ter
XM_011521067.2:c.3880C>T	XP_011519369.1:p.Arg1294Ter
XM_011521069.2:c.3793C>T	XP_011519371.1:p.Arg1265Ter
XM_017020536.2:c.3376C>T	XP_016876025.1:p.Arg1126Ter
XM_017020537.1:c.3058C>T	XP_016876026.1:p.Arg1020Ter
XM_024449336.1:c.3967C>T	XP_024305104.1:p.Arg1323Ter
NM_052867.4:c.3823C>T MANE Select	NP_443099.1:p.Arg1275Ter
NM_001350748.2:c.3910C>T	NP_001337677.1:p.Arg1304Ter
NM_001350749.2:c.3823C>T	NP_001337678.1:p.Arg1275Ter
NM_001350750.2:c.3736C>T	NP_001337679.1:p.Arg1246Ter
NM_001350751.2:c.3736C>T	NP_001337680.1:p.Arg1246Ter