Canonical Allele Identifier: CA388650117

Gene: NALCN

Linked Data

• dbSNP Id: rs1421592871
• gnomAD v2: 13-101733879-A-T
• gnomAD v3: 13-101081528-A-T
• gnomAD v4: 13-101081528-A-T
• MyVariant Identifiers: chr13:g.101733879A>T (hg19) ; chr13:g.101081528A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081528A>T , CM000675.2:g.101081528A>T	GRCh38
NC_000013.10:g.101733879A>T , CM000675.1:g.101733879A>T	GRCh37
NC_000013.9:g.100531880A>T	NCBI36
NG_053176.1:g.340679T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3884T>A MANE Select	ENSP00000251127.6:p.Leu1295Gln
ENST00000648359.1:c.3884T>A	ENSP00000497465.1:p.Leu1295Gln
ENST00000675150.1:c.3605T>A	ENSP00000502680.1:p.Leu1202Gln
ENST00000675332.1:c.3971T>A	ENSP00000501955.1:p.Leu1324Gln
ENST00000676315.1:c.3797T>A	ENSP00000501603.1:p.Leu1266Gln
ENST00000251127.10:c.3884T>A	ENSP00000251127.6:p.Leu1295Gln
NM_052867.2:c.3884T>A	NP_443099.1:p.Leu1295Gln
XM_011521067.1:c.3941T>A	XP_011519369.1:p.Leu1314Gln
XM_011521068.1:c.3884T>A	XP_011519370.1:p.Leu1295Gln
XM_011521069.1:c.3854T>A	XP_011519371.1:p.Leu1285Gln
XM_011521070.1:c.3662T>A	XP_011519372.1:p.Leu1221Gln
NM_001350748.1:c.3971T>A	NP_001337677.1:p.Leu1324Gln
NM_001350749.1:c.3884T>A	NP_001337678.1:p.Leu1295Gln
NM_001350750.1:c.3797T>A	NP_001337679.1:p.Leu1266Gln
NM_001350751.1:c.3797T>A	NP_001337680.1:p.Leu1266Gln
NM_052867.3:c.3884T>A	NP_443099.1:p.Leu1295Gln
XM_011521067.2:c.3941T>A	XP_011519369.1:p.Leu1314Gln
XM_011521069.2:c.3854T>A	XP_011519371.1:p.Leu1285Gln
XM_017020536.2:c.3437T>A	XP_016876025.1:p.Leu1146Gln
XM_017020537.1:c.3119T>A	XP_016876026.1:p.Leu1040Gln
XM_024449336.1:c.4028T>A	XP_024305104.1:p.Leu1343Gln
NM_052867.4:c.3884T>A MANE Select	NP_443099.1:p.Leu1295Gln
NM_001350748.2:c.3971T>A	NP_001337677.1:p.Leu1324Gln
NM_001350749.2:c.3884T>A	NP_001337678.1:p.Leu1295Gln
NM_001350750.2:c.3797T>A	NP_001337679.1:p.Leu1266Gln
NM_001350751.2:c.3797T>A	NP_001337680.1:p.Leu1266Gln