Canonical Allele Identifier: CA388650377

Gene: NALCN

Linked Data

• dbSNP Id: rs1218780022
• gnomAD v2: 13-101733956-C-T
• MyVariant Identifiers: chr13:g.101733956C>T (hg19) ; chr13:g.101081605C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081605C>T , CM000675.2:g.101081605C>T	GRCh38
NC_000013.10:g.101733956C>T , CM000675.1:g.101733956C>T	GRCh37
NC_000013.9:g.100531957C>T	NCBI36
NG_053176.1:g.340602G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3807G>A MANE Select	ENSP00000251127.6:p.Trp1269Ter
ENST00000648359.1:c.3807G>A	ENSP00000497465.1:p.Trp1269Ter
ENST00000675150.1:c.3528G>A	ENSP00000502680.1:p.Trp1176Ter
ENST00000675332.1:c.3894G>A	ENSP00000501955.1:p.Trp1298Ter
ENST00000676315.1:c.3720G>A	ENSP00000501603.1:p.Trp1240Ter
ENST00000251127.10:c.3807G>A	ENSP00000251127.6:p.Trp1269Ter
NM_052867.2:c.3807G>A	NP_443099.1:p.Trp1269Ter
XM_011521067.1:c.3864G>A	XP_011519369.1:p.Trp1288Ter
XM_011521068.1:c.3807G>A	XP_011519370.1:p.Trp1269Ter
XM_011521069.1:c.3777G>A	XP_011519371.1:p.Trp1259Ter
XM_011521070.1:c.3585G>A	XP_011519372.1:p.Trp1195Ter
NM_001350748.1:c.3894G>A	NP_001337677.1:p.Trp1298Ter
NM_001350749.1:c.3807G>A	NP_001337678.1:p.Trp1269Ter
NM_001350750.1:c.3720G>A	NP_001337679.1:p.Trp1240Ter
NM_001350751.1:c.3720G>A	NP_001337680.1:p.Trp1240Ter
NM_052867.3:c.3807G>A	NP_443099.1:p.Trp1269Ter
XM_011521067.2:c.3864G>A	XP_011519369.1:p.Trp1288Ter
XM_011521069.2:c.3777G>A	XP_011519371.1:p.Trp1259Ter
XM_017020536.2:c.3360G>A	XP_016876025.1:p.Trp1120Ter
XM_017020537.1:c.3042G>A	XP_016876026.1:p.Trp1014Ter
XM_024449336.1:c.3951G>A	XP_024305104.1:p.Trp1317Ter
NM_052867.4:c.3807G>A MANE Select	NP_443099.1:p.Trp1269Ter
NM_001350748.2:c.3894G>A	NP_001337677.1:p.Trp1298Ter
NM_001350749.2:c.3807G>A	NP_001337678.1:p.Trp1269Ter
NM_001350750.2:c.3720G>A	NP_001337679.1:p.Trp1240Ter
NM_001350751.2:c.3720G>A	NP_001337680.1:p.Trp1240Ter