Canonical Allele Identifier: CA388704632

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101944345G>T (hg19) ; chr13:g.101291994G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101291994G>T , CM000675.2:g.101291994G>T	GRCh38
NC_000013.10:g.101944345G>T , CM000675.1:g.101944345G>T	GRCh37
NC_000013.9:g.100742346G>T	NCBI36
NG_053176.1:g.130213C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.1043C>A MANE Select	ENSP00000251127.6:p.Thr348Asn
ENST00000648359.1:c.1043C>A	ENSP00000497465.1:p.Thr348Asn
ENST00000674840.1:n.1141C>A
ENST00000674904.1:n.1123C>A
ENST00000675150.1:c.1043C>A	ENSP00000502680.1:p.Thr348Asn
ENST00000675332.1:c.1043C>A	ENSP00000501955.1:p.Thr348Asn
ENST00000675415.1:n.1226C>A
ENST00000675594.1:c.*480C>A	ENSP00000502490.1:n.*480C>A
ENST00000675802.1:c.1043C>A	ENSP00000501818.1:p.Thr348Asn
ENST00000676315.1:c.1043C>A	ENSP00000501603.1:p.Thr348Asn
ENST00000676439.1:n.1217C>A
ENST00000251127.10:c.1043C>A	ENSP00000251127.6:p.Thr348Asn
ENST00000470333.1:n.1139C>A
ENST00000497170.5:n.1197C>A
NM_052867.2:c.1043C>A	NP_443099.1:p.Thr348Asn
XM_011521067.1:c.1100C>A	XP_011519369.1:p.Thr367Asn
XM_011521068.1:c.1043C>A	XP_011519370.1:p.Thr348Asn
XM_011521069.1:c.1100C>A	XP_011519371.1:p.Thr367Asn
XM_011521070.1:c.1100C>A	XP_011519372.1:p.Thr367Asn
NM_001350748.1:c.1043C>A	NP_001337677.1:p.Thr348Asn
NM_001350749.1:c.1043C>A	NP_001337678.1:p.Thr348Asn
NM_001350750.1:c.1043C>A	NP_001337679.1:p.Thr348Asn
NM_001350751.1:c.1043C>A	NP_001337680.1:p.Thr348Asn
NM_052867.3:c.1043C>A	NP_443099.1:p.Thr348Asn
XM_011521067.2:c.1100C>A	XP_011519369.1:p.Thr367Asn
XM_011521069.2:c.1100C>A	XP_011519371.1:p.Thr367Asn
XM_017020536.2:c.596C>A	XP_016876025.1:p.Thr199Asn
XM_017020537.1:c.278C>A	XP_016876026.1:p.Thr93Asn
XM_024449336.1:c.1100C>A	XP_024305104.1:p.Thr367Asn
NM_052867.4:c.1043C>A MANE Select	NP_443099.1:p.Thr348Asn
NM_001350748.2:c.1043C>A	NP_001337677.1:p.Thr348Asn
NM_001350749.2:c.1043C>A	NP_001337678.1:p.Thr348Asn
NM_001350750.2:c.1043C>A	NP_001337679.1:p.Thr348Asn
NM_001350751.2:c.1043C>A	NP_001337680.1:p.Thr348Asn