Canonical Allele Identifier: CA959557349

Gene: NALCN

Linked Data

• dbSNP Id: rs1566539326
• gnomAD v3: 13-101291983-A-C
• gnomAD v4: 13-101291983-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101291983A>C , CM000675.2:g.101291983A>C	GRCh38
NC_000013.10:g.101944334A>C , CM000675.1:g.101944334A>C	GRCh37
NC_000013.9:g.100742335A>C	NCBI36
NG_053176.1:g.130224T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.1047+7T>G MANE Select	ENSP00000251127.6:n.1047+7T>G
ENST00000648359.1:c.1047+7T>G	ENSP00000497465.1:n.1047+7T>G
ENST00000674840.1:n.1145+7T>G
ENST00000674904.1:n.1127+7T>G
ENST00000675150.1:c.1047+7T>G	ENSP00000502680.1:n.1047+7T>G
ENST00000675332.1:c.1047+7T>G	ENSP00000501955.1:n.1047+7T>G
ENST00000675415.1:n.1230+7T>G
ENST00000675594.1:c.*484+7T>G	ENSP00000502490.1:n.*484+7T>G
ENST00000675802.1:c.1047+7T>G	ENSP00000501818.1:n.1047+7T>G
ENST00000676315.1:c.1047+7T>G	ENSP00000501603.1:n.1047+7T>G
ENST00000676439.1:n.1221+7T>G
ENST00000251127.10:c.1047+7T>G	ENSP00000251127.6:n.1047+7T>G
ENST00000470333.1:n.1143+7T>G
ENST00000497170.5:n.1201+7T>G
NM_052867.2:c.1047+7T>G	NP_443099.1:n.1047+7T>G
XM_011521067.1:c.1104+7T>G	XP_011519369.1:n.1104+7T>G
XM_011521068.1:c.1047+7T>G	XP_011519370.1:n.1047+7T>G
XM_011521069.1:c.1104+7T>G	XP_011519371.1:n.1104+7T>G
XM_011521070.1:c.1104+7T>G	XP_011519372.1:n.1104+7T>G
NM_001350748.1:c.1047+7T>G	NP_001337677.1:n.1047+7T>G
NM_001350749.1:c.1047+7T>G	NP_001337678.1:n.1047+7T>G
NM_001350750.1:c.1047+7T>G	NP_001337679.1:n.1047+7T>G
NM_001350751.1:c.1047+7T>G	NP_001337680.1:n.1047+7T>G
NM_052867.3:c.1047+7T>G	NP_443099.1:n.1047+7T>G
XM_011521067.2:c.1104+7T>G	XP_011519369.1:n.1104+7T>G
XM_011521069.2:c.1104+7T>G	XP_011519371.1:n.1104+7T>G
XM_017020536.2:c.600+7T>G	XP_016876025.1:n.600+7T>G
XM_017020537.1:c.282+7T>G	XP_016876026.1:n.282+7T>G
XM_024449336.1:c.1104+7T>G	XP_024305104.1:n.1104+7T>G
NM_052867.4:c.1047+7T>G MANE Select	NP_443099.1:n.1047+7T>G
NM_001350748.2:c.1047+7T>G	NP_001337677.1:n.1047+7T>G
NM_001350749.2:c.1047+7T>G	NP_001337678.1:n.1047+7T>G
NM_001350750.2:c.1047+7T>G	NP_001337679.1:n.1047+7T>G
NM_001350751.2:c.1047+7T>G	NP_001337680.1:n.1047+7T>G