Canonical Allele Identifier: CA7035281

Gene: NALCN

Linked Data

• ClinVar Variation Id: 2184918
• ClinVar RCV Id: RCV002632357
• dbSNP Id: rs776128344
• ExAC: 13:101733917 C / T
• gnomAD v2: 13-101733917-C-T
• gnomAD v3: 13-101081566-C-T
• gnomAD v4: 13-101081566-C-T
• COSMIC: COSM4705447
• MyVariant Identifiers: chr13:g.101733917C>T (hg19) ; chr13:g.101081566C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081566C>T , CM000675.2:g.101081566C>T	GRCh38
NC_000013.10:g.101733917C>T , CM000675.1:g.101733917C>T	GRCh37
NC_000013.9:g.100531918C>T	NCBI36
NG_053176.1:g.340641G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3846G>A MANE Select	ENSP00000251127.6:p.Ser1282=
ENST00000648359.1:c.3846G>A	ENSP00000497465.1:p.Ser1282=
ENST00000675150.1:c.3567G>A	ENSP00000502680.1:p.Ser1189=
ENST00000675332.1:c.3933G>A	ENSP00000501955.1:p.Ser1311=
ENST00000676315.1:c.3759G>A	ENSP00000501603.1:p.Ser1253=
ENST00000251127.10:c.3846G>A	ENSP00000251127.6:p.Ser1282=
NM_052867.2:c.3846G>A	NP_443099.1:p.Ser1282=
XM_011521067.1:c.3903G>A	XP_011519369.1:p.Ser1301=
XM_011521068.1:c.3846G>A	XP_011519370.1:p.Ser1282=
XM_011521069.1:c.3816G>A	XP_011519371.1:p.Ser1272=
XM_011521070.1:c.3624G>A	XP_011519372.1:p.Ser1208=
NM_001350748.1:c.3933G>A	NP_001337677.1:p.Ser1311=
NM_001350749.1:c.3846G>A	NP_001337678.1:p.Ser1282=
NM_001350750.1:c.3759G>A	NP_001337679.1:p.Ser1253=
NM_001350751.1:c.3759G>A	NP_001337680.1:p.Ser1253=
NM_052867.3:c.3846G>A	NP_443099.1:p.Ser1282=
XM_011521067.2:c.3903G>A	XP_011519369.1:p.Ser1301=
XM_011521069.2:c.3816G>A	XP_011519371.1:p.Ser1272=
XM_017020536.2:c.3399G>A	XP_016876025.1:p.Ser1133=
XM_017020537.1:c.3081G>A	XP_016876026.1:p.Ser1027=
XM_024449336.1:c.3990G>A	XP_024305104.1:p.Ser1330=
NM_052867.4:c.3846G>A MANE Select	NP_443099.1:p.Ser1282=
NM_001350748.2:c.3933G>A	NP_001337677.1:p.Ser1311=
NM_001350749.2:c.3846G>A	NP_001337678.1:p.Ser1282=
NM_001350750.2:c.3759G>A	NP_001337679.1:p.Ser1253=
NM_001350751.2:c.3759G>A	NP_001337680.1:p.Ser1253=