Canonical Allele Identifier: CA9373257
Gene: LGI4 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.35126873C>G
GRCh37 chr19:g.35617777C>G
Revel Score:
ENST00000310123 (MANE Select) 0.373
ENST00000392225 0.373
ENST00000437421 0.373
gnomAD v2:
19:35617777 C / G
gnomAD v4:
chr19-35126873-C-G
Joint Max Group AF 0.00000553 (AMR)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar Allele:
413204
ClinVar RCV:
RCV000487487
ClinVar Variation:
424870
dbSNP:
755500591
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35126873C>G , CM000681.2:g.35126873C>G GRCh38
NC_000019.9:g.35617777C>G , CM000681.1:g.35617777C>G GRCh37
NC_000019.8:g.40309617C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310123.8:c.773G>C MANE Select ENSP00000312273.3:p.Arg258Pro
ENST00000310123.7:c.773G>C ENSP00000312273.3:p.Arg258Pro
ENST00000392225.7:c.773G>C ENSP00000376059.3:p.Arg258Pro
ENST00000493050.5:n.832G>C
ENST00000587780.5:c.508G>C
ENST00000591840.5:n.420-2007G>C
ENST00000593248.5:n.904G>C
NM_139284.2:c.773G>C NP_644813.1:p.Arg258Pro
XM_011526594.1:c.773G>C XP_011524896.1:p.Arg258Pro
XM_011526595.1:c.257G>C XP_011524897.1:p.Arg86Pro
XM_011526595.2:c.257G>C XP_011524897.1:p.Arg86Pro
XM_017026428.1:c.257G>C XP_016881917.1:p.Arg86Pro
XM_017026429.1:c.257G>C XP_016881918.1:p.Arg86Pro
XM_017026430.2:c.257G>C XP_016881919.1:p.Arg86Pro
NM_139284.3:c.773G>C MANE Select NP_644813.1:p.Arg258Pro
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