Canonical Allele Identifier: CA388703370

Gene: NALCN

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101191925C>G , CM000675.2:g.101191925C>G	GRCh38
NC_000013.10:g.101844276C>G , CM000675.1:g.101844276C>G	GRCh37
NC_000013.9:g.100642277C>G	NCBI36
NG_053176.1:g.230282G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_052867.4:c.1756G>C MANE Select	NP_443099.1:p.Ala586Pro
ENST00000251127.11:c.1756G>C MANE Select	ENSP00000251127.6:p.Ala586Pro
NM_001350748.1:c.1756G>C	NP_001337677.1:p.Ala586Pro
NM_001350748.2:c.1756G>C	NP_001337677.1:p.Ala586Pro
NM_001350749.1:c.1756G>C	NP_001337678.1:p.Ala586Pro
NM_001350749.2:c.1756G>C	NP_001337678.1:p.Ala586Pro
NM_001350750.1:c.1669G>C	NP_001337679.1:p.Ala557Pro
NM_001350750.2:c.1669G>C	NP_001337679.1:p.Ala557Pro
NM_001350751.1:c.1669G>C	NP_001337680.1:p.Ala557Pro
NM_001350751.2:c.1669G>C	NP_001337680.1:p.Ala557Pro
NM_052867.2:c.1756G>C	NP_443099.1:p.Ala586Pro
NM_052867.3:c.1756G>C	NP_443099.1:p.Ala586Pro
ENST00000251127.10:c.1756G>C	ENSP00000251127.6:p.Ala586Pro
ENST00000470333.1:n.1852G>C
ENST00000497170.5:n.1910G>C
ENST00000648359.1:c.1756G>C	ENSP00000497465.1:p.Ala586Pro
ENST00000674840.1:n.1854G>C
ENST00000674904.1:n.1836G>C
ENST00000675150.1:c.1756G>C	ENSP00000502680.1:p.Ala586Pro
ENST00000675332.1:c.1756G>C	ENSP00000501955.1:p.Ala586Pro
ENST00000675594.1:c.*1193G>C	ENSP00000502490.1:n.*1193G>C
ENST00000675802.1:c.1756G>C	ENSP00000501818.1:p.Ala586Pro
ENST00000676315.1:c.1669G>C	ENSP00000501603.1:p.Ala557Pro
ENST00000676439.1:n.1930G>C
XM_011521067.1:c.1813G>C	XP_011519369.1:p.Ala605Pro
XM_011521067.2:c.1813G>C	XP_011519369.1:p.Ala605Pro
XM_011521068.1:c.1756G>C	XP_011519370.1:p.Ala586Pro
XM_011521069.1:c.1726G>C	XP_011519371.1:p.Ala576Pro
XM_011521069.2:c.1726G>C	XP_011519371.1:p.Ala576Pro
XM_011521070.1:c.1813G>C	XP_011519372.1:p.Ala605Pro
XM_017020536.2:c.1309G>C	XP_016876025.1:p.Ala437Pro
XM_017020537.1:c.991G>C	XP_016876026.1:p.Ala331Pro
XM_024449336.1:c.1813G>C	XP_024305104.1:p.Ala605Pro