Canonical Allele Identifier: CA7035294

Gene: NALCN

Linked Data

• dbSNP Id: rs771794579
• ExAC: 13:101733992 G / A
• gnomAD v2: 13-101733992-G-A
• gnomAD v4: 13-101081641-G-A
• MyVariant Identifiers: chr13:g.101733992G>A (hg19) ; chr13:g.101081641G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081641G>A , CM000675.2:g.101081641G>A	GRCh38
NC_000013.10:g.101733992G>A , CM000675.1:g.101733992G>A	GRCh37
NC_000013.9:g.100531993G>A	NCBI36
NG_053176.1:g.340566C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3771C>T MANE Select	ENSP00000251127.6:p.Thr1257=
ENST00000648359.1:c.3771C>T	ENSP00000497465.1:p.Thr1257=
ENST00000675150.1:c.3492C>T	ENSP00000502680.1:p.Thr1164=
ENST00000675332.1:c.3858C>T	ENSP00000501955.1:p.Thr1286=
ENST00000676315.1:c.3684C>T	ENSP00000501603.1:p.Thr1228=
ENST00000251127.10:c.3771C>T	ENSP00000251127.6:p.Thr1257=
NM_052867.2:c.3771C>T	NP_443099.1:p.Thr1257=
XM_011521067.1:c.3828C>T	XP_011519369.1:p.Thr1276=
XM_011521068.1:c.3771C>T	XP_011519370.1:p.Thr1257=
XM_011521069.1:c.3741C>T	XP_011519371.1:p.Thr1247=
XM_011521070.1:c.3549C>T	XP_011519372.1:p.Thr1183=
NM_001350748.1:c.3858C>T	NP_001337677.1:p.Thr1286=
NM_001350749.1:c.3771C>T	NP_001337678.1:p.Thr1257=
NM_001350750.1:c.3684C>T	NP_001337679.1:p.Thr1228=
NM_001350751.1:c.3684C>T	NP_001337680.1:p.Thr1228=
NM_052867.3:c.3771C>T	NP_443099.1:p.Thr1257=
XM_011521067.2:c.3828C>T	XP_011519369.1:p.Thr1276=
XM_011521069.2:c.3741C>T	XP_011519371.1:p.Thr1247=
XM_017020536.2:c.3324C>T	XP_016876025.1:p.Thr1108=
XM_017020537.1:c.3006C>T	XP_016876026.1:p.Thr1002=
XM_024449336.1:c.3915C>T	XP_024305104.1:p.Thr1305=
NM_052867.4:c.3771C>T MANE Select	NP_443099.1:p.Thr1257=
NM_001350748.2:c.3858C>T	NP_001337677.1:p.Thr1286=
NM_001350749.2:c.3771C>T	NP_001337678.1:p.Thr1257=
NM_001350750.2:c.3684C>T	NP_001337679.1:p.Thr1228=
NM_001350751.2:c.3684C>T	NP_001337680.1:p.Thr1228=