Canonical Allele Identifier: CA484763887

Gene: NALCN

Linked Data

• dbSNP Id: rs2043582321
• gnomAD v4: 13-101292242-G-A
• MyVariant Identifiers: chr13:g.101944593G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101292242G>A , CM000675.2:g.101292242G>A	GRCh38
NC_000013.10:g.101944593G>A , CM000675.1:g.101944593G>A	GRCh37
NC_000013.9:g.100742594G>A	NCBI36
NG_053176.1:g.129965C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.924C>T MANE Select	ENSP00000251127.6:p.Phe308=
ENST00000648359.1:c.924C>T	ENSP00000497465.1:p.Phe308=
ENST00000674840.1:n.1022C>T
ENST00000674904.1:n.1004C>T
ENST00000675075.1:n.526C>T
ENST00000675150.1:c.924C>T	ENSP00000502680.1:p.Phe308=
ENST00000675332.1:c.924C>T	ENSP00000501955.1:p.Phe308=
ENST00000675415.1:n.1107C>T
ENST00000675594.1:c.*361C>T	ENSP00000502490.1:n.*361C>T
ENST00000675802.1:c.924C>T	ENSP00000501818.1:p.Phe308=
ENST00000676315.1:c.924C>T	ENSP00000501603.1:p.Phe308=
ENST00000676439.1:n.1098C>T
ENST00000251127.10:c.924C>T	ENSP00000251127.6:p.Phe308=
ENST00000470333.1:n.1020C>T
ENST00000497170.5:n.1078C>T
NM_052867.2:c.924C>T	NP_443099.1:p.Phe308=
XM_011521067.1:c.981C>T	XP_011519369.1:p.Phe327=
XM_011521068.1:c.924C>T	XP_011519370.1:p.Phe308=
XM_011521069.1:c.981C>T	XP_011519371.1:p.Phe327=
XM_011521070.1:c.981C>T	XP_011519372.1:p.Phe327=
NM_001350748.1:c.924C>T	NP_001337677.1:p.Phe308=
NM_001350749.1:c.924C>T	NP_001337678.1:p.Phe308=
NM_001350750.1:c.924C>T	NP_001337679.1:p.Phe308=
NM_001350751.1:c.924C>T	NP_001337680.1:p.Phe308=
NM_052867.3:c.924C>T	NP_443099.1:p.Phe308=
XM_011521067.2:c.981C>T	XP_011519369.1:p.Phe327=
XM_011521069.2:c.981C>T	XP_011519371.1:p.Phe327=
XM_017020536.2:c.477C>T	XP_016876025.1:p.Phe159=
XM_017020537.1:c.159C>T	XP_016876026.1:p.Phe53=
XM_024449336.1:c.981C>T	XP_024305104.1:p.Phe327=
NM_052867.4:c.924C>T MANE Select	NP_443099.1:p.Phe308=
NM_001350748.2:c.924C>T	NP_001337677.1:p.Phe308=
NM_001350749.2:c.924C>T	NP_001337678.1:p.Phe308=
NM_001350750.2:c.924C>T	NP_001337679.1:p.Phe308=
NM_001350751.2:c.924C>T	NP_001337680.1:p.Phe308=