Canonical Allele Identifier: CA388705506

Gene: NALCN

Linked Data

• dbSNP Id: rs1234061359
• gnomAD v2: 13-102029166-G-T
• MyVariant Identifiers: chr13:g.102029166G>T (hg19) ; chr13:g.101376815G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101376815G>T , CM000675.2:g.101376815G>T	GRCh38
NC_000013.10:g.102029166G>T , CM000675.1:g.102029166G>T	GRCh37
NC_000013.9:g.100827167G>T	NCBI36
NG_053176.1:g.45392C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.529C>A MANE Select	ENSP00000251127.6:p.Gln177Lys
ENST00000376200.6:c.529C>A	ENSP00000365373.5:p.Gln177Lys
ENST00000648359.1:c.529C>A	ENSP00000497465.1:p.Gln177Lys
ENST00000674840.1:n.627C>A
ENST00000674904.1:n.609C>A
ENST00000675150.1:c.529C>A	ENSP00000502680.1:p.Gln177Lys
ENST00000675332.1:c.529C>A	ENSP00000501955.1:p.Gln177Lys
ENST00000675415.1:n.712C>A
ENST00000675594.1:c.529C>A	ENSP00000502490.1:p.Gln177Lys
ENST00000675802.1:c.529C>A	ENSP00000501818.1:p.Gln177Lys
ENST00000676315.1:c.529C>A	ENSP00000501603.1:p.Gln177Lys
ENST00000676357.1:n.749C>A
ENST00000676439.1:n.703C>A
ENST00000251127.10:c.529C>A	ENSP00000251127.6:p.Gln177Lys
ENST00000376200.5:c.529C>A	ENSP00000365373.5:p.Gln177Lys
ENST00000470333.1:n.625C>A
ENST00000497170.5:n.718C>A
NM_052867.2:c.529C>A	NP_443099.1:p.Gln177Lys
XM_011521067.1:c.586C>A	XP_011519369.1:p.Gln196Lys
XM_011521068.1:c.529C>A	XP_011519370.1:p.Gln177Lys
XM_011521069.1:c.586C>A	XP_011519371.1:p.Gln196Lys
XM_011521070.1:c.586C>A	XP_011519372.1:p.Gln196Lys
NM_001350748.1:c.529C>A	NP_001337677.1:p.Gln177Lys
NM_001350749.1:c.529C>A	NP_001337678.1:p.Gln177Lys
NM_001350750.1:c.529C>A	NP_001337679.1:p.Gln177Lys
NM_001350751.1:c.529C>A	NP_001337680.1:p.Gln177Lys
NM_052867.3:c.529C>A	NP_443099.1:p.Gln177Lys
XM_011521067.2:c.586C>A	XP_011519369.1:p.Gln196Lys
XM_011521069.2:c.586C>A	XP_011519371.1:p.Gln196Lys
XM_024449336.1:c.586C>A	XP_024305104.1:p.Gln196Lys
NM_052867.4:c.529C>A MANE Select	NP_443099.1:p.Gln177Lys
NM_001350748.2:c.529C>A	NP_001337677.1:p.Gln177Lys
NM_001350749.2:c.529C>A	NP_001337678.1:p.Gln177Lys
NM_001350750.2:c.529C>A	NP_001337679.1:p.Gln177Lys
NM_001350751.2:c.529C>A	NP_001337680.1:p.Gln177Lys