Canonical Allele Identifier: CA388669214

Gene: NALCN

Linked Data

• gnomAD v4: 13-101103217-C-G
• COSMIC: COSM5810829
• MyVariant Identifiers: chr13:g.101755568C>G (hg19) ; chr13:g.101103217C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101103217C>G , CM000675.2:g.101103217C>G	GRCh38
NC_000013.10:g.101755568C>G , CM000675.1:g.101755568C>G	GRCh37
NC_000013.9:g.100553569C>G	NCBI36
NG_053176.1:g.318990G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.3012G>C MANE Select	ENSP00000251127.6:p.Arg1004Ser
ENST00000648359.1:c.3012G>C	ENSP00000497465.1:p.Arg1004Ser
ENST00000675150.1:c.2733G>C	ENSP00000502680.1:p.Arg911Ser
ENST00000675332.1:c.3099G>C	ENSP00000501955.1:p.Arg1033Ser
ENST00000676315.1:c.2925G>C	ENSP00000501603.1:p.Arg975Ser
ENST00000251127.10:c.3012G>C	ENSP00000251127.6:p.Arg1004Ser
NM_052867.2:c.3012G>C	NP_443099.1:p.Arg1004Ser
XM_011521067.1:c.3069G>C	XP_011519369.1:p.Arg1023Ser
XM_011521068.1:c.3012G>C	XP_011519370.1:p.Arg1004Ser
XM_011521069.1:c.2982G>C	XP_011519371.1:p.Arg994Ser
XM_011521070.1:c.2790G>C	XP_011519372.1:p.Arg930Ser
NM_001350748.1:c.3099G>C	NP_001337677.1:p.Arg1033Ser
NM_001350749.1:c.3012G>C	NP_001337678.1:p.Arg1004Ser
NM_001350750.1:c.2925G>C	NP_001337679.1:p.Arg975Ser
NM_001350751.1:c.2925G>C	NP_001337680.1:p.Arg975Ser
NM_052867.3:c.3012G>C	NP_443099.1:p.Arg1004Ser
XM_011521067.2:c.3069G>C	XP_011519369.1:p.Arg1023Ser
XM_011521069.2:c.2982G>C	XP_011519371.1:p.Arg994Ser
XM_017020536.2:c.2565G>C	XP_016876025.1:p.Arg855Ser
XM_017020537.1:c.2247G>C	XP_016876026.1:p.Arg749Ser
XM_024449336.1:c.3156G>C	XP_024305104.1:p.Arg1052Ser
NM_052867.4:c.3012G>C MANE Select	NP_443099.1:p.Arg1004Ser
NM_001350748.2:c.3099G>C	NP_001337677.1:p.Arg1033Ser
NM_001350749.2:c.3012G>C	NP_001337678.1:p.Arg1004Ser
NM_001350750.2:c.2925G>C	NP_001337679.1:p.Arg975Ser
NM_001350751.2:c.2925G>C	NP_001337680.1:p.Arg975Ser