Canonical Allele Identifier: CA484553418

Gene: NALCN

Linked Data

• gnomAD v4: 13-101083766-T-C
• MyVariant Identifiers: chr13:g.101736117T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101083766T>C , CM000675.2:g.101083766T>C	GRCh38
NC_000013.10:g.101736117T>C , CM000675.1:g.101736117T>C	GRCh37
NC_000013.9:g.100534118T>C	NCBI36
NG_053176.1:g.338441A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.3528A>G MANE Select	ENSP00000251127.6:p.Glu1176=
ENST00000648359.1:c.3528A>G	ENSP00000497465.1:p.Glu1176=
ENST00000675150.1:c.3249A>G	ENSP00000502680.1:p.Glu1083=
ENST00000675332.1:c.3615A>G	ENSP00000501955.1:p.Glu1205=
ENST00000676315.1:c.3441A>G	ENSP00000501603.1:p.Glu1147=
ENST00000251127.10:c.3528A>G	ENSP00000251127.6:p.Glu1176=
NM_052867.2:c.3528A>G	NP_443099.1:p.Glu1176=
XM_011521067.1:c.3585A>G	XP_011519369.1:p.Glu1195=
XM_011521068.1:c.3528A>G	XP_011519370.1:p.Glu1176=
XM_011521069.1:c.3498A>G	XP_011519371.1:p.Glu1166=
XM_011521070.1:c.3306A>G	XP_011519372.1:p.Glu1102=
NM_001350748.1:c.3615A>G	NP_001337677.1:p.Glu1205=
NM_001350749.1:c.3528A>G	NP_001337678.1:p.Glu1176=
NM_001350750.1:c.3441A>G	NP_001337679.1:p.Glu1147=
NM_001350751.1:c.3441A>G	NP_001337680.1:p.Glu1147=
NM_052867.3:c.3528A>G	NP_443099.1:p.Glu1176=
XM_011521067.2:c.3585A>G	XP_011519369.1:p.Glu1195=
XM_011521069.2:c.3498A>G	XP_011519371.1:p.Glu1166=
XM_017020536.2:c.3081A>G	XP_016876025.1:p.Glu1027=
XM_017020537.1:c.2763A>G	XP_016876026.1:p.Glu921=
XM_024449336.1:c.3672A>G	XP_024305104.1:p.Glu1224=
NM_052867.4:c.3528A>G MANE Select	NP_443099.1:p.Glu1176=
NM_001350748.2:c.3615A>G	NP_001337677.1:p.Glu1205=
NM_001350749.2:c.3528A>G	NP_001337678.1:p.Glu1176=
NM_001350750.2:c.3441A>G	NP_001337679.1:p.Glu1147=
NM_001350751.2:c.3441A>G	NP_001337680.1:p.Glu1147=