Canonical Allele Identifier: CA388654881

Gene: NALCN

Linked Data

• ClinVar Variation Id: 520429
• ClinVar RCV Id: RCV000622774
• dbSNP Id: rs1555381108
• MyVariant Identifiers: chr13:g.101753233T>C (hg19) ; chr13:g.101100882T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101100882T>C , CM000675.2:g.101100882T>C	GRCh38
NC_000013.10:g.101753233T>C , CM000675.1:g.101753233T>C	GRCh37
NC_000013.9:g.100551234T>C	NCBI36
NG_053176.1:g.321325A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3064A>G MANE Select	ENSP00000251127.6:p.Ile1022Val
ENST00000648359.1:c.3064A>G	ENSP00000497465.1:p.Ile1022Val
ENST00000675150.1:c.2785A>G	ENSP00000502680.1:p.Ile929Val
ENST00000675332.1:c.3151A>G	ENSP00000501955.1:p.Ile1051Val
ENST00000676315.1:c.2977A>G	ENSP00000501603.1:p.Ile993Val
ENST00000251127.10:c.3064A>G	ENSP00000251127.6:p.Ile1022Val
NM_052867.2:c.3064A>G	NP_443099.1:p.Ile1022Val
XM_011521067.1:c.3121A>G	XP_011519369.1:p.Ile1041Val
XM_011521068.1:c.3064A>G	XP_011519370.1:p.Ile1022Val
XM_011521069.1:c.3034A>G	XP_011519371.1:p.Ile1012Val
XM_011521070.1:c.2842A>G	XP_011519372.1:p.Ile948Val
NM_001350748.1:c.3151A>G	NP_001337677.1:p.Ile1051Val
NM_001350749.1:c.3064A>G	NP_001337678.1:p.Ile1022Val
NM_001350750.1:c.2977A>G	NP_001337679.1:p.Ile993Val
NM_001350751.1:c.2977A>G	NP_001337680.1:p.Ile993Val
NM_052867.3:c.3064A>G	NP_443099.1:p.Ile1022Val
XM_011521067.2:c.3121A>G	XP_011519369.1:p.Ile1041Val
XM_011521069.2:c.3034A>G	XP_011519371.1:p.Ile1012Val
XM_017020536.2:c.2617A>G	XP_016876025.1:p.Ile873Val
XM_017020537.1:c.2299A>G	XP_016876026.1:p.Ile767Val
XM_024449336.1:c.3208A>G	XP_024305104.1:p.Ile1070Val
NM_052867.4:c.3064A>G MANE Select	NP_443099.1:p.Ile1022Val
NM_001350748.2:c.3151A>G	NP_001337677.1:p.Ile1051Val
NM_001350749.2:c.3064A>G	NP_001337678.1:p.Ile1022Val
NM_001350750.2:c.2977A>G	NP_001337679.1:p.Ile993Val
NM_001350751.2:c.2977A>G	NP_001337680.1:p.Ile993Val