Canonical Allele Identifier: CA484763872

Gene: NALCN

Linked Data

• dbSNP Id: rs1246922024
• gnomAD v2: 13-101944434-A-G
• gnomAD v4: 13-101292083-A-G
• MyVariant Identifiers: chr13:g.101944434A>G (hg19) ; chr13:g.101292083A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101292083A>G , CM000675.2:g.101292083A>G	GRCh38
NC_000013.10:g.101944434A>G , CM000675.1:g.101944434A>G	GRCh37
NC_000013.9:g.100742435A>G	NCBI36
NG_053176.1:g.130124T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.954T>C MANE Select	ENSP00000251127.6:p.Ile318=
ENST00000648359.1:c.954T>C	ENSP00000497465.1:p.Ile318=
ENST00000674840.1:n.1052T>C
ENST00000674904.1:n.1034T>C
ENST00000675075.1:n.556T>C
ENST00000675150.1:c.954T>C	ENSP00000502680.1:p.Ile318=
ENST00000675332.1:c.954T>C	ENSP00000501955.1:p.Ile318=
ENST00000675415.1:n.1137T>C
ENST00000675594.1:c.*391T>C	ENSP00000502490.1:n.*391T>C
ENST00000675802.1:c.954T>C	ENSP00000501818.1:p.Ile318=
ENST00000676315.1:c.954T>C	ENSP00000501603.1:p.Ile318=
ENST00000676439.1:n.1128T>C
ENST00000251127.10:c.954T>C	ENSP00000251127.6:p.Ile318=
ENST00000470333.1:n.1050T>C
ENST00000497170.5:n.1108T>C
NM_052867.2:c.954T>C	NP_443099.1:p.Ile318=
XM_011521067.1:c.1011T>C	XP_011519369.1:p.Ile337=
XM_011521068.1:c.954T>C	XP_011519370.1:p.Ile318=
XM_011521069.1:c.1011T>C	XP_011519371.1:p.Ile337=
XM_011521070.1:c.1011T>C	XP_011519372.1:p.Ile337=
NM_001350748.1:c.954T>C	NP_001337677.1:p.Ile318=
NM_001350749.1:c.954T>C	NP_001337678.1:p.Ile318=
NM_001350750.1:c.954T>C	NP_001337679.1:p.Ile318=
NM_001350751.1:c.954T>C	NP_001337680.1:p.Ile318=
NM_052867.3:c.954T>C	NP_443099.1:p.Ile318=
XM_011521067.2:c.1011T>C	XP_011519369.1:p.Ile337=
XM_011521069.2:c.1011T>C	XP_011519371.1:p.Ile337=
XM_017020536.2:c.507T>C	XP_016876025.1:p.Ile169=
XM_017020537.1:c.189T>C	XP_016876026.1:p.Ile63=
XM_024449336.1:c.1011T>C	XP_024305104.1:p.Ile337=
NM_052867.4:c.954T>C MANE Select	NP_443099.1:p.Ile318=
NM_001350748.2:c.954T>C	NP_001337677.1:p.Ile318=
NM_001350749.2:c.954T>C	NP_001337678.1:p.Ile318=
NM_001350750.2:c.954T>C	NP_001337679.1:p.Ile318=
NM_001350751.2:c.954T>C	NP_001337680.1:p.Ile318=