Canonical Allele Identifier: CA388650153

Gene: NALCN

Linked Data

• dbSNP Id: rs1362901999
• gnomAD v2: 13-101733890-G-T
• gnomAD v3: 13-101081539-G-T
• gnomAD v4: 13-101081539-G-T
• MyVariant Identifiers: chr13:g.101733890G>T (hg19) ; chr13:g.101081539G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081539G>T , CM000675.2:g.101081539G>T	GRCh38
NC_000013.10:g.101733890G>T , CM000675.1:g.101733890G>T	GRCh37
NC_000013.9:g.100531891G>T	NCBI36
NG_053176.1:g.340668C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3873C>A MANE Select	ENSP00000251127.6:p.His1291Gln
ENST00000648359.1:c.3873C>A	ENSP00000497465.1:p.His1291Gln
ENST00000675150.1:c.3594C>A	ENSP00000502680.1:p.His1198Gln
ENST00000675332.1:c.3960C>A	ENSP00000501955.1:p.His1320Gln
ENST00000676315.1:c.3786C>A	ENSP00000501603.1:p.His1262Gln
ENST00000251127.10:c.3873C>A	ENSP00000251127.6:p.His1291Gln
NM_052867.2:c.3873C>A	NP_443099.1:p.His1291Gln
XM_011521067.1:c.3930C>A	XP_011519369.1:p.His1310Gln
XM_011521068.1:c.3873C>A	XP_011519370.1:p.His1291Gln
XM_011521069.1:c.3843C>A	XP_011519371.1:p.His1281Gln
XM_011521070.1:c.3651C>A	XP_011519372.1:p.His1217Gln
NM_001350748.1:c.3960C>A	NP_001337677.1:p.His1320Gln
NM_001350749.1:c.3873C>A	NP_001337678.1:p.His1291Gln
NM_001350750.1:c.3786C>A	NP_001337679.1:p.His1262Gln
NM_001350751.1:c.3786C>A	NP_001337680.1:p.His1262Gln
NM_052867.3:c.3873C>A	NP_443099.1:p.His1291Gln
XM_011521067.2:c.3930C>A	XP_011519369.1:p.His1310Gln
XM_011521069.2:c.3843C>A	XP_011519371.1:p.His1281Gln
XM_017020536.2:c.3426C>A	XP_016876025.1:p.His1142Gln
XM_017020537.1:c.3108C>A	XP_016876026.1:p.His1036Gln
XM_024449336.1:c.4017C>A	XP_024305104.1:p.His1339Gln
NM_052867.4:c.3873C>A MANE Select	NP_443099.1:p.His1291Gln
NM_001350748.2:c.3960C>A	NP_001337677.1:p.His1320Gln
NM_001350749.2:c.3873C>A	NP_001337678.1:p.His1291Gln
NM_001350750.2:c.3786C>A	NP_001337679.1:p.His1262Gln
NM_001350751.2:c.3786C>A	NP_001337680.1:p.His1262Gln