Canonical Allele Identifier: CA388650326

Gene: NALCN

Linked Data

• COSMIC: COSM1216604
• MyVariant Identifiers: chr13:g.101733943T>G (hg19) ; chr13:g.101081592T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081592T>G , CM000675.2:g.101081592T>G	GRCh38
NC_000013.10:g.101733943T>G , CM000675.1:g.101733943T>G	GRCh37
NC_000013.9:g.100531944T>G	NCBI36
NG_053176.1:g.340615A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3820A>C MANE Select	ENSP00000251127.6:p.Asn1274His
ENST00000648359.1:c.3820A>C	ENSP00000497465.1:p.Asn1274His
ENST00000675150.1:c.3541A>C	ENSP00000502680.1:p.Asn1181His
ENST00000675332.1:c.3907A>C	ENSP00000501955.1:p.Asn1303His
ENST00000676315.1:c.3733A>C	ENSP00000501603.1:p.Asn1245His
ENST00000251127.10:c.3820A>C	ENSP00000251127.6:p.Asn1274His
NM_052867.2:c.3820A>C	NP_443099.1:p.Asn1274His
XM_011521067.1:c.3877A>C	XP_011519369.1:p.Asn1293His
XM_011521068.1:c.3820A>C	XP_011519370.1:p.Asn1274His
XM_011521069.1:c.3790A>C	XP_011519371.1:p.Asn1264His
XM_011521070.1:c.3598A>C	XP_011519372.1:p.Asn1200His
NM_001350748.1:c.3907A>C	NP_001337677.1:p.Asn1303His
NM_001350749.1:c.3820A>C	NP_001337678.1:p.Asn1274His
NM_001350750.1:c.3733A>C	NP_001337679.1:p.Asn1245His
NM_001350751.1:c.3733A>C	NP_001337680.1:p.Asn1245His
NM_052867.3:c.3820A>C	NP_443099.1:p.Asn1274His
XM_011521067.2:c.3877A>C	XP_011519369.1:p.Asn1293His
XM_011521069.2:c.3790A>C	XP_011519371.1:p.Asn1264His
XM_017020536.2:c.3373A>C	XP_016876025.1:p.Asn1125His
XM_017020537.1:c.3055A>C	XP_016876026.1:p.Asn1019His
XM_024449336.1:c.3964A>C	XP_024305104.1:p.Asn1322His
NM_052867.4:c.3820A>C MANE Select	NP_443099.1:p.Asn1274His
NM_001350748.2:c.3907A>C	NP_001337677.1:p.Asn1303His
NM_001350749.2:c.3820A>C	NP_001337678.1:p.Asn1274His
NM_001350750.2:c.3733A>C	NP_001337679.1:p.Asn1245His
NM_001350751.2:c.3733A>C	NP_001337680.1:p.Asn1245His