Canonical Allele Identifier: CA388651867

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101736113G>C (hg19) ; chr13:g.101083762G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101083762G>C , CM000675.2:g.101083762G>C	GRCh38
NC_000013.10:g.101736113G>C , CM000675.1:g.101736113G>C	GRCh37
NC_000013.9:g.100534114G>C	NCBI36
NG_053176.1:g.338445C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.3532C>G MANE Select	ENSP00000251127.6:p.Leu1178Val
ENST00000648359.1:c.3532C>G	ENSP00000497465.1:p.Leu1178Val
ENST00000675150.1:c.3253C>G	ENSP00000502680.1:p.Leu1085Val
ENST00000675332.1:c.3619C>G	ENSP00000501955.1:p.Leu1207Val
ENST00000676315.1:c.3445C>G	ENSP00000501603.1:p.Leu1149Val
ENST00000251127.10:c.3532C>G	ENSP00000251127.6:p.Leu1178Val
NM_052867.2:c.3532C>G	NP_443099.1:p.Leu1178Val
XM_011521067.1:c.3589C>G	XP_011519369.1:p.Leu1197Val
XM_011521068.1:c.3532C>G	XP_011519370.1:p.Leu1178Val
XM_011521069.1:c.3502C>G	XP_011519371.1:p.Leu1168Val
XM_011521070.1:c.3310C>G	XP_011519372.1:p.Leu1104Val
NM_001350748.1:c.3619C>G	NP_001337677.1:p.Leu1207Val
NM_001350749.1:c.3532C>G	NP_001337678.1:p.Leu1178Val
NM_001350750.1:c.3445C>G	NP_001337679.1:p.Leu1149Val
NM_001350751.1:c.3445C>G	NP_001337680.1:p.Leu1149Val
NM_052867.3:c.3532C>G	NP_443099.1:p.Leu1178Val
XM_011521067.2:c.3589C>G	XP_011519369.1:p.Leu1197Val
XM_011521069.2:c.3502C>G	XP_011519371.1:p.Leu1168Val
XM_017020536.2:c.3085C>G	XP_016876025.1:p.Leu1029Val
XM_017020537.1:c.2767C>G	XP_016876026.1:p.Leu923Val
XM_024449336.1:c.3676C>G	XP_024305104.1:p.Leu1226Val
NM_052867.4:c.3532C>G MANE Select	NP_443099.1:p.Leu1178Val
NM_001350748.2:c.3619C>G	NP_001337677.1:p.Leu1207Val
NM_001350749.2:c.3532C>G	NP_001337678.1:p.Leu1178Val
NM_001350750.2:c.3445C>G	NP_001337679.1:p.Leu1149Val
NM_001350751.2:c.3445C>G	NP_001337680.1:p.Leu1149Val