Canonical Allele Identifier: CA9373220
Gene: LGI4 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.35126706C>G
GRCh37 chr19:g.35617610C>G
Revel Score:
ENST00000392225 0.151
ENST00000310123 (MANE Select) 0.136
ENST00000437421 0.136
gnomAD v2:
19:35617610 C / G
gnomAD v3:
19:35126706 C / G
gnomAD v4:
chr19-35126706-C-G
Joint Max Group AF 0.00000254 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000136 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35126706C>G , CM000681.2:g.35126706C>G GRCh38
NC_000019.9:g.35617610C>G , CM000681.1:g.35617610C>G GRCh37
NC_000019.8:g.40309450C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310123.8:c.863G>C MANE Select ENSP00000312273.3:p.Trp288Ser
ENST00000310123.7:c.863G>C ENSP00000312273.3:p.Trp288Ser
ENST00000392225.7:c.940G>C ENSP00000376059.3:p.Gly314Arg
ENST00000493050.5:n.922G>C
ENST00000587780.5:c.598G>C
ENST00000591840.5:n.420-1840G>C
ENST00000593248.5:n.1071G>C
NM_139284.2:c.863G>C NP_644813.1:p.Trp288Ser
XM_011526594.1:c.863G>C XP_011524896.1:p.Trp288Ser
XM_011526595.1:c.347G>C XP_011524897.1:p.Trp116Ser
XM_011526595.2:c.347G>C XP_011524897.1:p.Trp116Ser
XM_017026428.1:c.347G>C XP_016881917.1:p.Trp116Ser
XM_017026429.1:c.347G>C XP_016881918.1:p.Trp116Ser
XM_017026430.2:c.347G>C XP_016881919.1:p.Trp116Ser
NM_139284.3:c.863G>C MANE Select NP_644813.1:p.Trp288Ser
Search 100 bp 5'
Search 100 bp 3'