Canonical Allele Identifier: CA307701770

Gene: LGI4

Linked Data

• dbSNP Id: rs1040436946
• gnomAD v2: 19-35617657-C-T
• gnomAD v3: 19-35126753-C-T
• gnomAD v4: 19-35126753-C-T
• MyVariant Identifiers: chr19:g.35617657C>T (hg19) ; chr19:g.35126753C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35126753C>T , CM000681.2:g.35126753C>T	GRCh38
NC_000019.9:g.35617657C>T , CM000681.1:g.35617657C>T	GRCh37
NC_000019.8:g.40309497C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000310123.8:c.816G>A MANE Select	ENSP00000312273.3:p.Lys272=
ENST00000310123.7:c.816G>A	ENSP00000312273.3:p.Lys272=
ENST00000392225.7:c.893G>A	ENSP00000376059.3:p.Ser298Asn
ENST00000493050.5:n.875G>A
ENST00000587780.5:c.551G>A
ENST00000591840.5:n.420-1887G>A
ENST00000593248.5:n.1024G>A
NM_139284.2:c.816G>A	NP_644813.1:p.Lys272=
XM_011526594.1:c.816G>A	XP_011524896.1:p.Lys272=
XM_011526595.1:c.300G>A	XP_011524897.1:p.Lys100=
XM_011526595.2:c.300G>A	XP_011524897.1:p.Lys100=
XM_017026428.1:c.300G>A	XP_016881917.1:p.Lys100=
XM_017026429.1:c.300G>A	XP_016881918.1:p.Lys100=
XM_017026430.2:c.300G>A	XP_016881919.1:p.Lys100=
NM_139284.3:c.816G>A MANE Select	NP_644813.1:p.Lys272=