Canonical Allele Identifier: CA388650211

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101733907C>T (hg19) ; chr13:g.101081556C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081556C>T , CM000675.2:g.101081556C>T	GRCh38
NC_000013.10:g.101733907C>T , CM000675.1:g.101733907C>T	GRCh37
NC_000013.9:g.100531908C>T	NCBI36
NG_053176.1:g.340651G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3856G>A MANE Select	ENSP00000251127.6:p.Val1286Ile
ENST00000648359.1:c.3856G>A	ENSP00000497465.1:p.Val1286Ile
ENST00000675150.1:c.3577G>A	ENSP00000502680.1:p.Val1193Ile
ENST00000675332.1:c.3943G>A	ENSP00000501955.1:p.Val1315Ile
ENST00000676315.1:c.3769G>A	ENSP00000501603.1:p.Val1257Ile
ENST00000251127.10:c.3856G>A	ENSP00000251127.6:p.Val1286Ile
NM_052867.2:c.3856G>A	NP_443099.1:p.Val1286Ile
XM_011521067.1:c.3913G>A	XP_011519369.1:p.Val1305Ile
XM_011521068.1:c.3856G>A	XP_011519370.1:p.Val1286Ile
XM_011521069.1:c.3826G>A	XP_011519371.1:p.Val1276Ile
XM_011521070.1:c.3634G>A	XP_011519372.1:p.Val1212Ile
NM_001350748.1:c.3943G>A	NP_001337677.1:p.Val1315Ile
NM_001350749.1:c.3856G>A	NP_001337678.1:p.Val1286Ile
NM_001350750.1:c.3769G>A	NP_001337679.1:p.Val1257Ile
NM_001350751.1:c.3769G>A	NP_001337680.1:p.Val1257Ile
NM_052867.3:c.3856G>A	NP_443099.1:p.Val1286Ile
XM_011521067.2:c.3913G>A	XP_011519369.1:p.Val1305Ile
XM_011521069.2:c.3826G>A	XP_011519371.1:p.Val1276Ile
XM_017020536.2:c.3409G>A	XP_016876025.1:p.Val1137Ile
XM_017020537.1:c.3091G>A	XP_016876026.1:p.Val1031Ile
XM_024449336.1:c.4000G>A	XP_024305104.1:p.Val1334Ile
NM_052867.4:c.3856G>A MANE Select	NP_443099.1:p.Val1286Ile
NM_001350748.2:c.3943G>A	NP_001337677.1:p.Val1315Ile
NM_001350749.2:c.3856G>A	NP_001337678.1:p.Val1286Ile
NM_001350750.2:c.3769G>A	NP_001337679.1:p.Val1257Ile
NM_001350751.2:c.3769G>A	NP_001337680.1:p.Val1257Ile