Canonical Allele Identifier: CA388704936

Gene: NALCN

Linked Data

• dbSNP Id: rs2043582569
• gnomAD v3: 13-101292253-G-C
• gnomAD v4: 13-101292253-G-C
• COSMIC: COSM4984173 ; COSM4984174
• MyVariant Identifiers: chr13:g.101944604G>C (hg19) ; chr13:g.101292253G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101292253G>C , CM000675.2:g.101292253G>C	GRCh38
NC_000013.10:g.101944604G>C , CM000675.1:g.101944604G>C	GRCh37
NC_000013.9:g.100742605G>C	NCBI36
NG_053176.1:g.129954C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.913C>G MANE Select	ENSP00000251127.6:p.Leu305Val
ENST00000648359.1:c.913C>G	ENSP00000497465.1:p.Leu305Val
ENST00000674840.1:n.1011C>G
ENST00000674904.1:n.993C>G
ENST00000675075.1:n.515C>G
ENST00000675150.1:c.913C>G	ENSP00000502680.1:p.Leu305Val
ENST00000675332.1:c.913C>G	ENSP00000501955.1:p.Leu305Val
ENST00000675415.1:n.1096C>G
ENST00000675594.1:c.*350C>G	ENSP00000502490.1:n.*350C>G
ENST00000675802.1:c.913C>G	ENSP00000501818.1:p.Leu305Val
ENST00000676315.1:c.913C>G	ENSP00000501603.1:p.Leu305Val
ENST00000676439.1:n.1087C>G
ENST00000251127.10:c.913C>G	ENSP00000251127.6:p.Leu305Val
ENST00000470333.1:n.1009C>G
ENST00000497170.5:n.1067C>G
NM_052867.2:c.913C>G	NP_443099.1:p.Leu305Val
XM_011521067.1:c.970C>G	XP_011519369.1:p.Leu324Val
XM_011521068.1:c.913C>G	XP_011519370.1:p.Leu305Val
XM_011521069.1:c.970C>G	XP_011519371.1:p.Leu324Val
XM_011521070.1:c.970C>G	XP_011519372.1:p.Leu324Val
NM_001350748.1:c.913C>G	NP_001337677.1:p.Leu305Val
NM_001350749.1:c.913C>G	NP_001337678.1:p.Leu305Val
NM_001350750.1:c.913C>G	NP_001337679.1:p.Leu305Val
NM_001350751.1:c.913C>G	NP_001337680.1:p.Leu305Val
NM_052867.3:c.913C>G	NP_443099.1:p.Leu305Val
XM_011521067.2:c.970C>G	XP_011519369.1:p.Leu324Val
XM_011521069.2:c.970C>G	XP_011519371.1:p.Leu324Val
XM_017020536.2:c.466C>G	XP_016876025.1:p.Leu156Val
XM_017020537.1:c.148C>G	XP_016876026.1:p.Leu50Val
XM_024449336.1:c.970C>G	XP_024305104.1:p.Leu324Val
NM_052867.4:c.913C>G MANE Select	NP_443099.1:p.Leu305Val
NM_001350748.2:c.913C>G	NP_001337677.1:p.Leu305Val
NM_001350749.2:c.913C>G	NP_001337678.1:p.Leu305Val
NM_001350750.2:c.913C>G	NP_001337679.1:p.Leu305Val
NM_001350751.2:c.913C>G	NP_001337680.1:p.Leu305Val