Canonical Allele Identifier: CA255407045

Gene: NALCN

Linked Data

• dbSNP Id: rs1006261774
• gnomAD v3: 13-101081531-A-G
• gnomAD v4: 13-101081531-A-G
• MyVariant Identifiers: chr13:g.101733882A>G (hg19) ; chr13:g.101081531A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081531A>G , CM000675.2:g.101081531A>G	GRCh38
NC_000013.10:g.101733882A>G , CM000675.1:g.101733882A>G	GRCh37
NC_000013.9:g.100531883A>G	NCBI36
NG_053176.1:g.340676T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3881T>C MANE Select	ENSP00000251127.6:p.Leu1294Pro
ENST00000648359.1:c.3881T>C	ENSP00000497465.1:p.Leu1294Pro
ENST00000675150.1:c.3602T>C	ENSP00000502680.1:p.Leu1201Pro
ENST00000675332.1:c.3968T>C	ENSP00000501955.1:p.Leu1323Pro
ENST00000676315.1:c.3794T>C	ENSP00000501603.1:p.Leu1265Pro
ENST00000251127.10:c.3881T>C	ENSP00000251127.6:p.Leu1294Pro
NM_052867.2:c.3881T>C	NP_443099.1:p.Leu1294Pro
XM_011521067.1:c.3938T>C	XP_011519369.1:p.Leu1313Pro
XM_011521068.1:c.3881T>C	XP_011519370.1:p.Leu1294Pro
XM_011521069.1:c.3851T>C	XP_011519371.1:p.Leu1284Pro
XM_011521070.1:c.3659T>C	XP_011519372.1:p.Leu1220Pro
NM_001350748.1:c.3968T>C	NP_001337677.1:p.Leu1323Pro
NM_001350749.1:c.3881T>C	NP_001337678.1:p.Leu1294Pro
NM_001350750.1:c.3794T>C	NP_001337679.1:p.Leu1265Pro
NM_001350751.1:c.3794T>C	NP_001337680.1:p.Leu1265Pro
NM_052867.3:c.3881T>C	NP_443099.1:p.Leu1294Pro
XM_011521067.2:c.3938T>C	XP_011519369.1:p.Leu1313Pro
XM_011521069.2:c.3851T>C	XP_011519371.1:p.Leu1284Pro
XM_017020536.2:c.3434T>C	XP_016876025.1:p.Leu1145Pro
XM_017020537.1:c.3116T>C	XP_016876026.1:p.Leu1039Pro
XM_024449336.1:c.4025T>C	XP_024305104.1:p.Leu1342Pro
NM_052867.4:c.3881T>C MANE Select	NP_443099.1:p.Leu1294Pro
NM_001350748.2:c.3968T>C	NP_001337677.1:p.Leu1323Pro
NM_001350749.2:c.3881T>C	NP_001337678.1:p.Leu1294Pro
NM_001350750.2:c.3794T>C	NP_001337679.1:p.Leu1265Pro
NM_001350751.2:c.3794T>C	NP_001337680.1:p.Leu1265Pro