Canonical Allele Identifier: CA388669343

Gene: NALCN

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101103282G>A , CM000675.2:g.101103282G>A	GRCh38
NC_000013.10:g.101755633G>A , CM000675.1:g.101755633G>A	GRCh37
NC_000013.9:g.100553634G>A	NCBI36
NG_053176.1:g.318925C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_052867.4:c.2947C>T MANE Select	NP_443099.1:p.Gln983Ter
ENST00000251127.11:c.2947C>T MANE Select	ENSP00000251127.6:p.Gln983Ter
NM_001350748.1:c.3034C>T	NP_001337677.1:p.Gln1012Ter
NM_001350748.2:c.3034C>T	NP_001337677.1:p.Gln1012Ter
NM_001350749.1:c.2947C>T	NP_001337678.1:p.Gln983Ter
NM_001350749.2:c.2947C>T	NP_001337678.1:p.Gln983Ter
NM_001350750.1:c.2860C>T	NP_001337679.1:p.Gln954Ter
NM_001350750.2:c.2860C>T	NP_001337679.1:p.Gln954Ter
NM_001350751.1:c.2860C>T	NP_001337680.1:p.Gln954Ter
NM_001350751.2:c.2860C>T	NP_001337680.1:p.Gln954Ter
NM_052867.2:c.2947C>T	NP_443099.1:p.Gln983Ter
NM_052867.3:c.2947C>T	NP_443099.1:p.Gln983Ter
ENST00000251127.10:c.2947C>T	ENSP00000251127.6:p.Gln983Ter
ENST00000648359.1:c.2947C>T	ENSP00000497465.1:p.Gln983Ter
ENST00000675150.1:c.2668C>T	ENSP00000502680.1:p.Gln890Ter
ENST00000675332.1:c.3034C>T	ENSP00000501955.1:p.Gln1012Ter
ENST00000676315.1:c.2860C>T	ENSP00000501603.1:p.Gln954Ter
XM_011521067.1:c.3004C>T	XP_011519369.1:p.Gln1002Ter
XM_011521067.2:c.3004C>T	XP_011519369.1:p.Gln1002Ter
XM_011521068.1:c.2947C>T	XP_011519370.1:p.Gln983Ter
XM_011521069.1:c.2917C>T	XP_011519371.1:p.Gln973Ter
XM_011521069.2:c.2917C>T	XP_011519371.1:p.Gln973Ter
XM_011521070.1:c.2725C>T	XP_011519372.1:p.Gln909Ter
XM_017020536.2:c.2500C>T	XP_016876025.1:p.Gln834Ter
XM_017020537.1:c.2182C>T	XP_016876026.1:p.Gln728Ter
XM_024449336.1:c.3091C>T	XP_024305104.1:p.Gln1031Ter