Canonical Allele Identifier: CA405308911

Gene: LGI4

Linked Data

• gnomAD v4: 19-35126948-G-T
• MyVariant Identifiers: chr19:g.35617852G>T (hg19) ; chr19:g.35126948G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35126948G>T , CM000681.2:g.35126948G>T	GRCh38
NC_000019.9:g.35617852G>T , CM000681.1:g.35617852G>T	GRCh37
NC_000019.8:g.40309692G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310123.8:c.698C>A MANE Select	ENSP00000312273.3:p.Pro233His
ENST00000310123.7:c.698C>A	ENSP00000312273.3:p.Pro233His
ENST00000392225.7:c.698C>A	ENSP00000376059.3:p.Pro233His
ENST00000493050.5:n.757C>A
ENST00000587780.5:c.433C>A
ENST00000591840.5:n.420-2082C>A
ENST00000593248.5:n.829C>A
NM_139284.2:c.698C>A	NP_644813.1:p.Pro233His
XM_011526594.1:c.698C>A	XP_011524896.1:p.Pro233His
XM_011526595.1:c.182C>A	XP_011524897.1:p.Pro61His
XM_011526595.2:c.182C>A	XP_011524897.1:p.Pro61His
XM_017026428.1:c.182C>A	XP_016881917.1:p.Pro61His
XM_017026429.1:c.182C>A	XP_016881918.1:p.Pro61His
XM_017026430.2:c.182C>A	XP_016881919.1:p.Pro61His
NM_139284.3:c.698C>A MANE Select	NP_644813.1:p.Pro233His