Canonical Allele Identifier: CA484763933

Gene: NALCN

Linked Data

• gnomAD v4: 13-101292326-T-C
• MyVariant Identifiers: chr13:g.101944677T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101292326T>C , CM000675.2:g.101292326T>C	GRCh38
NC_000013.10:g.101944677T>C , CM000675.1:g.101944677T>C	GRCh37
NC_000013.9:g.100742678T>C	NCBI36
NG_053176.1:g.129881A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.840A>G MANE Select	ENSP00000251127.6:p.Glu280=
ENST00000648359.1:c.840A>G	ENSP00000497465.1:p.Glu280=
ENST00000674840.1:n.938A>G
ENST00000674904.1:n.920A>G
ENST00000675075.1:n.442A>G
ENST00000675150.1:c.840A>G	ENSP00000502680.1:p.Glu280=
ENST00000675332.1:c.840A>G	ENSP00000501955.1:p.Glu280=
ENST00000675415.1:n.1023A>G
ENST00000675594.1:c.*277A>G	ENSP00000502490.1:n.*277A>G
ENST00000675802.1:c.840A>G	ENSP00000501818.1:p.Glu280=
ENST00000676315.1:c.840A>G	ENSP00000501603.1:p.Glu280=
ENST00000676439.1:n.1014A>G
ENST00000251127.10:c.840A>G	ENSP00000251127.6:p.Glu280=
ENST00000470333.1:n.936A>G
ENST00000497170.5:n.994A>G
NM_052867.2:c.840A>G	NP_443099.1:p.Glu280=
XM_011521067.1:c.897A>G	XP_011519369.1:p.Glu299=
XM_011521068.1:c.840A>G	XP_011519370.1:p.Glu280=
XM_011521069.1:c.897A>G	XP_011519371.1:p.Glu299=
XM_011521070.1:c.897A>G	XP_011519372.1:p.Glu299=
NM_001350748.1:c.840A>G	NP_001337677.1:p.Glu280=
NM_001350749.1:c.840A>G	NP_001337678.1:p.Glu280=
NM_001350750.1:c.840A>G	NP_001337679.1:p.Glu280=
NM_001350751.1:c.840A>G	NP_001337680.1:p.Glu280=
NM_052867.3:c.840A>G	NP_443099.1:p.Glu280=
XM_011521067.2:c.897A>G	XP_011519369.1:p.Glu299=
XM_011521069.2:c.897A>G	XP_011519371.1:p.Glu299=
XM_017020536.2:c.393A>G	XP_016876025.1:p.Glu131=
XM_017020537.1:c.75A>G	XP_016876026.1:p.Glu25=
XM_024449336.1:c.897A>G	XP_024305104.1:p.Glu299=
NM_052867.4:c.840A>G MANE Select	NP_443099.1:p.Glu280=
NM_001350748.2:c.840A>G	NP_001337677.1:p.Glu280=
NM_001350749.2:c.840A>G	NP_001337678.1:p.Glu280=
NM_001350750.2:c.840A>G	NP_001337679.1:p.Glu280=
NM_001350751.2:c.840A>G	NP_001337680.1:p.Glu280=