Canonical Allele Identifier: CA7036368

Gene: NALCN

Linked Data

• ClinVar Variation Id: 2901658
• ClinVar RCV Id: RCV003731388
• dbSNP Id: rs547884572
• ExAC: 13:101944701 G / A
• gnomAD v2: 13-101944701-G-A
• gnomAD v3: 13-101292350-G-A
• gnomAD v4: 13-101292350-G-A
• MyVariant Identifiers: chr13:g.101944701G>A (hg19) ; chr13:g.101292350G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101292350G>A , CM000675.2:g.101292350G>A	GRCh38
NC_000013.10:g.101944701G>A , CM000675.1:g.101944701G>A	GRCh37
NC_000013.9:g.100742702G>A	NCBI36
NG_053176.1:g.129857C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.816C>T MANE Select	ENSP00000251127.6:p.Thr272=
ENST00000648359.1:c.816C>T	ENSP00000497465.1:p.Thr272=
ENST00000674840.1:n.914C>T
ENST00000674904.1:n.896C>T
ENST00000675075.1:n.418C>T
ENST00000675150.1:c.816C>T	ENSP00000502680.1:p.Thr272=
ENST00000675332.1:c.816C>T	ENSP00000501955.1:p.Thr272=
ENST00000675415.1:n.999C>T
ENST00000675594.1:c.*253C>T	ENSP00000502490.1:n.*253C>T
ENST00000675802.1:c.816C>T	ENSP00000501818.1:p.Thr272=
ENST00000676315.1:c.816C>T	ENSP00000501603.1:p.Thr272=
ENST00000676439.1:n.990C>T
ENST00000251127.10:c.816C>T	ENSP00000251127.6:p.Thr272=
ENST00000470333.1:n.912C>T
ENST00000497170.5:n.970C>T
NM_052867.2:c.816C>T	NP_443099.1:p.Thr272=
XM_011521067.1:c.873C>T	XP_011519369.1:p.Thr291=
XM_011521068.1:c.816C>T	XP_011519370.1:p.Thr272=
XM_011521069.1:c.873C>T	XP_011519371.1:p.Thr291=
XM_011521070.1:c.873C>T	XP_011519372.1:p.Thr291=
NM_001350748.1:c.816C>T	NP_001337677.1:p.Thr272=
NM_001350749.1:c.816C>T	NP_001337678.1:p.Thr272=
NM_001350750.1:c.816C>T	NP_001337679.1:p.Thr272=
NM_001350751.1:c.816C>T	NP_001337680.1:p.Thr272=
NM_052867.3:c.816C>T	NP_443099.1:p.Thr272=
XM_011521067.2:c.873C>T	XP_011519369.1:p.Thr291=
XM_011521069.2:c.873C>T	XP_011519371.1:p.Thr291=
XM_017020536.2:c.369C>T	XP_016876025.1:p.Thr123=
XM_017020537.1:c.51C>T	XP_016876026.1:p.Thr17=
XM_024449336.1:c.873C>T	XP_024305104.1:p.Thr291=
NM_052867.4:c.816C>T MANE Select	NP_443099.1:p.Thr272=
NM_001350748.2:c.816C>T	NP_001337677.1:p.Thr272=
NM_001350749.2:c.816C>T	NP_001337678.1:p.Thr272=
NM_001350750.2:c.816C>T	NP_001337679.1:p.Thr272=
NM_001350751.2:c.816C>T	NP_001337680.1:p.Thr272=