Canonical Allele Identifier: CA388671355

Gene: NALCN

Linked Data

• dbSNP Id: rs1222718638
• gnomAD v3: 13-101143103-C-T
• gnomAD v4: 13-101143103-C-T
• MyVariant Identifiers: chr13:g.101795454C>T (hg19) ; chr13:g.101143103C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101143103C>T , CM000675.2:g.101143103C>T	GRCh38
NC_000013.10:g.101795454C>T , CM000675.1:g.101795454C>T	GRCh37
NC_000013.9:g.100593455C>T	NCBI36
NG_053176.1:g.279104G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.2095G>A MANE Select	ENSP00000251127.6:p.Asp699Asn
ENST00000467264.2:c.287G>A
ENST00000648359.1:c.2095G>A	ENSP00000497465.1:p.Asp699Asn
ENST00000675150.1:c.1840-18422G>A	ENSP00000502680.1:n.1840-18422G>A
ENST00000675332.1:c.2095G>A	ENSP00000501955.1:p.Asp699Asn
ENST00000675802.1:c.2095G>A	ENSP00000501818.1:p.Asp699Asn
ENST00000676315.1:c.2008G>A	ENSP00000501603.1:p.Asp670Asn
ENST00000251127.10:c.2095G>A	ENSP00000251127.6:p.Asp699Asn
ENST00000467264.1:n.119G>A
ENST00000497170.5:n.2249G>A
NM_052867.2:c.2095G>A	NP_443099.1:p.Asp699Asn
XM_011521067.1:c.2152G>A	XP_011519369.1:p.Asp718Asn
XM_011521068.1:c.2095G>A	XP_011519370.1:p.Asp699Asn
XM_011521069.1:c.2065G>A	XP_011519371.1:p.Asp689Asn
XM_011521070.1:c.1897-18422G>A	XP_011519372.1:n.1897-18422G>A
NM_001350748.1:c.2095G>A	NP_001337677.1:p.Asp699Asn
NM_001350749.1:c.2095G>A	NP_001337678.1:p.Asp699Asn
NM_001350750.1:c.2008G>A	NP_001337679.1:p.Asp670Asn
NM_001350751.1:c.2008G>A	NP_001337680.1:p.Asp670Asn
NM_052867.3:c.2095G>A	NP_443099.1:p.Asp699Asn
XM_011521067.2:c.2152G>A	XP_011519369.1:p.Asp718Asn
XM_011521069.2:c.2065G>A	XP_011519371.1:p.Asp689Asn
XM_017020536.2:c.1648G>A	XP_016876025.1:p.Asp550Asn
XM_017020537.1:c.1330G>A	XP_016876026.1:p.Asp444Asn
XM_024449336.1:c.2152G>A	XP_024305104.1:p.Asp718Asn
NM_052867.4:c.2095G>A MANE Select	NP_443099.1:p.Asp699Asn
NM_001350748.2:c.2095G>A	NP_001337677.1:p.Asp699Asn
NM_001350749.2:c.2095G>A	NP_001337678.1:p.Asp699Asn
NM_001350750.2:c.2008G>A	NP_001337679.1:p.Asp670Asn
NM_001350751.2:c.2008G>A	NP_001337680.1:p.Asp670Asn