Canonical Allele Identifier: CA388649013

Gene: NALCN

Linked Data

• dbSNP Id: rs869312952
• gnomAD v2: 13-101725935-C-G
• gnomAD v4: 13-101073583-C-G
• MyVariant Identifiers: chr13:g.101725935C>G (hg19) ; chr13:g.101073583C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101073583C>G , CM000675.2:g.101073583C>G	GRCh38
NC_000013.10:g.101725935C>G , CM000675.1:g.101725935C>G	GRCh37
NC_000013.9:g.100523936C>G	NCBI36
NG_053176.1:g.348624G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.4197+1G>C MANE Select	ENSP00000251127.6:n.4197+1G>C
ENST00000648359.1:c.4197+1G>C	ENSP00000497465.1:n.4197+1G>C
ENST00000675150.1:c.3918+1G>C	ENSP00000502680.1:n.3918+1G>C
ENST00000675332.1:c.4284+1G>C	ENSP00000501955.1:n.4284+1G>C
ENST00000676315.1:c.4110+1G>C	ENSP00000501603.1:n.4110+1G>C
ENST00000251127.10:c.4197+1G>C	ENSP00000251127.6:n.4197+1G>C
NM_052867.2:c.4197+1G>C	NP_443099.1:n.4197+1G>C
XM_011521067.1:c.4254+1G>C	XP_011519369.1:n.4254+1G>C
XM_011521068.1:c.4197+1G>C	XP_011519370.1:n.4197+1G>C
XM_011521069.1:c.4167+1G>C	XP_011519371.1:n.4167+1G>C
XM_011521070.1:c.3975+1G>C	XP_011519372.1:n.3975+1G>C
NM_001350748.1:c.4284+1G>C	NP_001337677.1:n.4284+1G>C
NM_001350749.1:c.4197+1G>C	NP_001337678.1:n.4197+1G>C
NM_001350750.1:c.4110+1G>C	NP_001337679.1:n.4110+1G>C
NM_001350751.1:c.4110+1G>C	NP_001337680.1:n.4110+1G>C
NM_052867.3:c.4197+1G>C	NP_443099.1:n.4197+1G>C
XM_011521067.2:c.4254+1G>C	XP_011519369.1:n.4254+1G>C
XM_011521069.2:c.4167+1G>C	XP_011519371.1:n.4167+1G>C
XM_017020536.2:c.3750+1G>C	XP_016876025.1:n.3750+1G>C
XM_017020537.1:c.3432+1G>C	XP_016876026.1:n.3432+1G>C
XM_024449336.1:c.4341+1G>C	XP_024305104.1:n.4341+1G>C
NM_052867.4:c.4197+1G>C MANE Select	NP_443099.1:n.4197+1G>C
NM_001350748.2:c.4284+1G>C	NP_001337677.1:n.4284+1G>C
NM_001350749.2:c.4197+1G>C	NP_001337678.1:n.4197+1G>C
NM_001350750.2:c.4110+1G>C	NP_001337679.1:n.4110+1G>C
NM_001350751.2:c.4110+1G>C	NP_001337680.1:n.4110+1G>C