Canonical Allele Identifier: CA7036359

Gene: NALCN

Linked Data

• ClinVar Variation Id: 736885
• ClinVar RCV Id: RCV000912576
• dbSNP Id: rs367869895
• ExAC: 13:101944602 G / T
• gnomAD v2: 13-101944602-G-T
• gnomAD v3: 13-101292251-G-T
• gnomAD v4: 13-101292251-G-T
• MyVariant Identifiers: chr13:g.101944602G>T (hg19) ; chr13:g.101292251G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101292251G>T , CM000675.2:g.101292251G>T	GRCh38
NC_000013.10:g.101944602G>T , CM000675.1:g.101944602G>T	GRCh37
NC_000013.9:g.100742603G>T	NCBI36
NG_053176.1:g.129956C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.915C>A MANE Select	ENSP00000251127.6:p.Leu305=
ENST00000648359.1:c.915C>A	ENSP00000497465.1:p.Leu305=
ENST00000674840.1:n.1013C>A
ENST00000674904.1:n.995C>A
ENST00000675075.1:n.517C>A
ENST00000675150.1:c.915C>A	ENSP00000502680.1:p.Leu305=
ENST00000675332.1:c.915C>A	ENSP00000501955.1:p.Leu305=
ENST00000675415.1:n.1098C>A
ENST00000675594.1:c.*352C>A	ENSP00000502490.1:n.*352C>A
ENST00000675802.1:c.915C>A	ENSP00000501818.1:p.Leu305=
ENST00000676315.1:c.915C>A	ENSP00000501603.1:p.Leu305=
ENST00000676439.1:n.1089C>A
ENST00000251127.10:c.915C>A	ENSP00000251127.6:p.Leu305=
ENST00000470333.1:n.1011C>A
ENST00000497170.5:n.1069C>A
NM_052867.2:c.915C>A	NP_443099.1:p.Leu305=
XM_011521067.1:c.972C>A	XP_011519369.1:p.Leu324=
XM_011521068.1:c.915C>A	XP_011519370.1:p.Leu305=
XM_011521069.1:c.972C>A	XP_011519371.1:p.Leu324=
XM_011521070.1:c.972C>A	XP_011519372.1:p.Leu324=
NM_001350748.1:c.915C>A	NP_001337677.1:p.Leu305=
NM_001350749.1:c.915C>A	NP_001337678.1:p.Leu305=
NM_001350750.1:c.915C>A	NP_001337679.1:p.Leu305=
NM_001350751.1:c.915C>A	NP_001337680.1:p.Leu305=
NM_052867.3:c.915C>A	NP_443099.1:p.Leu305=
XM_011521067.2:c.972C>A	XP_011519369.1:p.Leu324=
XM_011521069.2:c.972C>A	XP_011519371.1:p.Leu324=
XM_017020536.2:c.468C>A	XP_016876025.1:p.Leu156=
XM_017020537.1:c.150C>A	XP_016876026.1:p.Leu50=
XM_024449336.1:c.972C>A	XP_024305104.1:p.Leu324=
NM_052867.4:c.915C>A MANE Select	NP_443099.1:p.Leu305=
NM_001350748.2:c.915C>A	NP_001337677.1:p.Leu305=
NM_001350749.2:c.915C>A	NP_001337678.1:p.Leu305=
NM_001350750.2:c.915C>A	NP_001337679.1:p.Leu305=
NM_001350751.2:c.915C>A	NP_001337680.1:p.Leu305=