Canonical Allele Identifier: CA9373282

Gene: LGI4

Linked Data

• dbSNP Id: rs150807476
• ExAC: 19:35617859 C / T
• gnomAD v2: 19-35617859-C-T
• gnomAD v3: 19-35126955-C-T
• gnomAD v4: 19-35126955-C-T
• MyVariant Identifiers: chr19:g.35617859C>T (hg19) ; chr19:g.35126955C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35126955C>T , CM000681.2:g.35126955C>T	GRCh38
NC_000019.9:g.35617859C>T , CM000681.1:g.35617859C>T	GRCh37
NC_000019.8:g.40309699C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310123.8:c.691G>A MANE Select	ENSP00000312273.3:p.Gly231Arg
ENST00000310123.7:c.691G>A	ENSP00000312273.3:p.Gly231Arg
ENST00000392225.7:c.691G>A	ENSP00000376059.3:p.Gly231Arg
ENST00000493050.5:n.750G>A
ENST00000587780.5:c.426G>A
ENST00000591840.5:n.420-2089G>A
ENST00000593248.5:n.822G>A
NM_139284.2:c.691G>A	NP_644813.1:p.Gly231Arg
XM_011526594.1:c.691G>A	XP_011524896.1:p.Gly231Arg
XM_011526595.1:c.175G>A	XP_011524897.1:p.Gly59Arg
XM_011526595.2:c.175G>A	XP_011524897.1:p.Gly59Arg
XM_017026428.1:c.175G>A	XP_016881917.1:p.Gly59Arg
XM_017026429.1:c.175G>A	XP_016881918.1:p.Gly59Arg
XM_017026430.2:c.175G>A	XP_016881919.1:p.Gly59Arg
NM_139284.3:c.691G>A MANE Select	NP_644813.1:p.Gly231Arg