Canonical Allele Identifier: CA388671367

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101795460T>A (hg19) ; chr13:g.101143109T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101143109T>A , CM000675.2:g.101143109T>A	GRCh38
NC_000013.10:g.101795460T>A , CM000675.1:g.101795460T>A	GRCh37
NC_000013.9:g.100593461T>A	NCBI36
NG_053176.1:g.279098A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.2089A>T MANE Select	ENSP00000251127.6:p.Ile697Phe
ENST00000467264.2:c.281A>T
ENST00000648359.1:c.2089A>T	ENSP00000497465.1:p.Ile697Phe
ENST00000675150.1:c.1840-18428A>T	ENSP00000502680.1:n.1840-18428A>T
ENST00000675332.1:c.2089A>T	ENSP00000501955.1:p.Ile697Phe
ENST00000675802.1:c.2089A>T	ENSP00000501818.1:p.Ile697Phe
ENST00000676315.1:c.2002A>T	ENSP00000501603.1:p.Ile668Phe
ENST00000251127.10:c.2089A>T	ENSP00000251127.6:p.Ile697Phe
ENST00000467264.1:n.113A>T
ENST00000497170.5:n.2243A>T
NM_052867.2:c.2089A>T	NP_443099.1:p.Ile697Phe
XM_011521067.1:c.2146A>T	XP_011519369.1:p.Ile716Phe
XM_011521068.1:c.2089A>T	XP_011519370.1:p.Ile697Phe
XM_011521069.1:c.2059A>T	XP_011519371.1:p.Ile687Phe
XM_011521070.1:c.1897-18428A>T	XP_011519372.1:n.1897-18428A>T
NM_001350748.1:c.2089A>T	NP_001337677.1:p.Ile697Phe
NM_001350749.1:c.2089A>T	NP_001337678.1:p.Ile697Phe
NM_001350750.1:c.2002A>T	NP_001337679.1:p.Ile668Phe
NM_001350751.1:c.2002A>T	NP_001337680.1:p.Ile668Phe
NM_052867.3:c.2089A>T	NP_443099.1:p.Ile697Phe
XM_011521067.2:c.2146A>T	XP_011519369.1:p.Ile716Phe
XM_011521069.2:c.2059A>T	XP_011519371.1:p.Ile687Phe
XM_017020536.2:c.1642A>T	XP_016876025.1:p.Ile548Phe
XM_017020537.1:c.1324A>T	XP_016876026.1:p.Ile442Phe
XM_024449336.1:c.2146A>T	XP_024305104.1:p.Ile716Phe
NM_052867.4:c.2089A>T MANE Select	NP_443099.1:p.Ile697Phe
NM_001350748.2:c.2089A>T	NP_001337677.1:p.Ile697Phe
NM_001350749.2:c.2089A>T	NP_001337678.1:p.Ile697Phe
NM_001350750.2:c.2002A>T	NP_001337679.1:p.Ile668Phe
NM_001350751.2:c.2002A>T	NP_001337680.1:p.Ile668Phe