Canonical Allele Identifier: CA7034957

Gene: NALCN NALCN-AS1

Linked Data

• ClinVar Variation Id: 502132
• ClinVar RCV Id: RCV000595285 ; RCV003927940
• dbSNP Id: rs78817184
• ExAC: 13:101710337 G / C
• gnomAD v2: 13-101710337-G-C
• gnomAD v3: 13-101057985-G-C
• gnomAD v4: 13-101057985-G-C
• COSMIC: COSM1731251
• MyVariant Identifiers: chr13:g.101710337G>C (hg19) ; chr13:g.101057985G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101057985G>C , CM000675.2:g.101057985G>C	GRCh38
NC_000013.10:g.101710337G>C , CM000675.1:g.101710337G>C	GRCh37
NC_000013.9:g.100508338G>C	NCBI36
NG_053176.1:g.364222C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.4977C>G (NALCN) MANE Select	ENSP00000251127.6:p.Asp1659Glu
ENST00000648359.1:c.*597C>G (NALCN)	ENSP00000497465.1:n.*597C>G
ENST00000675150.1:c.4698C>G (NALCN)	ENSP00000502680.1:p.Asp1566Glu
ENST00000675332.1:c.5064C>G (NALCN)	ENSP00000501955.1:p.Asp1688Glu
ENST00000676315.1:c.4890C>G (NALCN)	ENSP00000501603.1:p.Asp1630Glu
ENST00000251127.10:c.4977C>G (NALCN)	ENSP00000251127.6:p.Asp1659Glu
NM_052867.2:c.4977C>G (NALCN)	NP_443099.1:p.Asp1659Glu
NR_047687.1:n.1545G>C (NALCN-AS1)
XM_011521067.1:c.5034C>G (NALCN)	XP_011519369.1:p.Asp1678Glu
XM_011521068.1:c.4977C>G (NALCN)	XP_011519370.1:p.Asp1659Glu
XM_011521069.1:c.4947C>G (NALCN)	XP_011519371.1:p.Asp1649Glu
XM_011521070.1:c.4755C>G (NALCN)	XP_011519372.1:p.Asp1585Glu
NM_001350748.1:c.5064C>G (NALCN)	NP_001337677.1:p.Asp1688Glu
NM_001350749.1:c.4977C>G (NALCN)	NP_001337678.1:p.Asp1659Glu
NM_001350750.1:c.4890C>G (NALCN)	NP_001337679.1:p.Asp1630Glu
NM_001350751.1:c.4890C>G (NALCN)	NP_001337680.1:p.Asp1630Glu
NM_052867.3:c.4977C>G (NALCN)	NP_443099.1:p.Asp1659Glu
XM_011521067.2:c.5034C>G (NALCN)	XP_011519369.1:p.Asp1678Glu
XM_011521069.2:c.4947C>G (NALCN)	XP_011519371.1:p.Asp1649Glu
XM_017020536.2:c.4530C>G (NALCN)	XP_016876025.1:p.Asp1510Glu
XM_017020537.1:c.4212C>G (NALCN)	XP_016876026.1:p.Asp1404Glu
XM_024449336.1:c.5121C>G (NALCN)	XP_024305104.1:p.Asp1707Glu
NM_052867.4:c.4977C>G (NALCN) MANE Select	NP_443099.1:p.Asp1659Glu
NM_001350748.2:c.5064C>G (NALCN)	NP_001337677.1:p.Asp1688Glu
NM_001350749.2:c.4977C>G (NALCN)	NP_001337678.1:p.Asp1659Glu
NM_001350750.2:c.4890C>G (NALCN)	NP_001337679.1:p.Asp1630Glu
NM_001350751.2:c.4890C>G (NALCN)	NP_001337680.1:p.Asp1630Glu