Canonical Allele Identifier: CA405305171

Gene: LGI4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35126538A>T , CM000681.2:g.35126538A>T	GRCh38
NC_000019.9:g.35617442A>T , CM000681.1:g.35617442A>T	GRCh37
NC_000019.8:g.40309282A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_139284.3:c.1031T>A MANE Select	NP_644813.1:p.Leu344Gln
ENST00000310123.8:c.1031T>A MANE Select	ENSP00000312273.3:p.Leu344Gln
NM_139284.2:c.1031T>A	NP_644813.1:p.Leu344Gln
ENST00000310123.7:c.1031T>A	ENSP00000312273.3:p.Leu344Gln
ENST00000392225.7:c.1108T>A	ENSP00000376059.3:p.Cys370Ser
ENST00000493050.5:n.1090T>A
ENST00000587780.5:c.766T>A
ENST00000591840.5:n.420-1672T>A
XM_011526594.1:c.1031T>A	XP_011524896.1:p.Leu344Gln
XM_011526595.1:c.515T>A	XP_011524897.1:p.Leu172Gln
XM_011526595.2:c.515T>A	XP_011524897.1:p.Leu172Gln
XM_017026428.1:c.515T>A	XP_016881917.1:p.Leu172Gln
XM_017026429.1:c.515T>A	XP_016881918.1:p.Leu172Gln
XM_017026430.2:c.515T>A	XP_016881919.1:p.Leu172Gln