Canonical Allele Identifier: CA388650365

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101733953T>G (hg19) ; chr13:g.101081602T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081602T>G , CM000675.2:g.101081602T>G	GRCh38
NC_000013.10:g.101733953T>G , CM000675.1:g.101733953T>G	GRCh37
NC_000013.9:g.100531954T>G	NCBI36
NG_053176.1:g.340605A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3810A>C MANE Select	ENSP00000251127.6:p.Gln1270His
ENST00000648359.1:c.3810A>C	ENSP00000497465.1:p.Gln1270His
ENST00000675150.1:c.3531A>C	ENSP00000502680.1:p.Gln1177His
ENST00000675332.1:c.3897A>C	ENSP00000501955.1:p.Gln1299His
ENST00000676315.1:c.3723A>C	ENSP00000501603.1:p.Gln1241His
ENST00000251127.10:c.3810A>C	ENSP00000251127.6:p.Gln1270His
NM_052867.2:c.3810A>C	NP_443099.1:p.Gln1270His
XM_011521067.1:c.3867A>C	XP_011519369.1:p.Gln1289His
XM_011521068.1:c.3810A>C	XP_011519370.1:p.Gln1270His
XM_011521069.1:c.3780A>C	XP_011519371.1:p.Gln1260His
XM_011521070.1:c.3588A>C	XP_011519372.1:p.Gln1196His
NM_001350748.1:c.3897A>C	NP_001337677.1:p.Gln1299His
NM_001350749.1:c.3810A>C	NP_001337678.1:p.Gln1270His
NM_001350750.1:c.3723A>C	NP_001337679.1:p.Gln1241His
NM_001350751.1:c.3723A>C	NP_001337680.1:p.Gln1241His
NM_052867.3:c.3810A>C	NP_443099.1:p.Gln1270His
XM_011521067.2:c.3867A>C	XP_011519369.1:p.Gln1289His
XM_011521069.2:c.3780A>C	XP_011519371.1:p.Gln1260His
XM_017020536.2:c.3363A>C	XP_016876025.1:p.Gln1121His
XM_017020537.1:c.3045A>C	XP_016876026.1:p.Gln1015His
XM_024449336.1:c.3954A>C	XP_024305104.1:p.Gln1318His
NM_052867.4:c.3810A>C MANE Select	NP_443099.1:p.Gln1270His
NM_001350748.2:c.3897A>C	NP_001337677.1:p.Gln1299His
NM_001350749.2:c.3810A>C	NP_001337678.1:p.Gln1270His
NM_001350750.2:c.3723A>C	NP_001337679.1:p.Gln1241His
NM_001350751.2:c.3723A>C	NP_001337680.1:p.Gln1241His