Canonical Allele Identifier: CA250546
Community Standard Title: NM_033343.4(LHX4):c.569T>G (p.Leu190Arg)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.180271497T>G , CM000663.2:g.180271497T>G GRCh38
NC_000001.10:g.180240632T>G , CM000663.1:g.180240632T>G GRCh37
NC_000001.9:g.178507255T>G NCBI36
NG_008081.1:g.46191T>G

Transcript Alleles

HGVS Amino-acid Change
NM_033343.4:c.569T>G (LHX4) MANE Select NP_203129.1:p.Leu190Arg
ENST00000263726.4:c.569T>G (LHX4) MANE Select ENSP00000263726.2:p.Leu190Arg
NM_033343.3:c.569T>G (LHX4) NP_203129.1:p.Leu190Arg
NR_037642.1:n.823A>C (LHX4-AS1)
ENST00000263726.3:c.569T>G (LHX4) ENSP00000263726.2:p.Leu190Arg
ENST00000415414.5:n.823A>C (ACBD6)
ENST00000561113.1:c.506T>G (LHX4)
ENST00000642319.1:c.*1728A>C (ACBD6) ENSP00000495710.1:n.*1728A>C
ENST00000645415.1:c.*1961A>C (ACBD6) ENSP00000494507.1:n.*1961A>C
XM_011510105.1:c.386T>G (LHX4) XP_011508407.1:p.Leu129Arg
XM_011510105.2:c.386T>G (LHX4) XP_011508407.1:p.Leu129Arg
XM_011510106.1:c.386T>G (LHX4) XP_011508408.1:p.Leu129Arg
XM_011510106.3:c.386T>G (LHX4) XP_011508408.1:p.Leu129Arg
XM_011510107.1:c.344T>G (LHX4) XP_011508409.1:p.Leu115Arg
XM_011510108.1:c.344T>G (LHX4) XP_011508410.1:p.Leu115Arg
XM_011510108.2:c.344T>G (LHX4) XP_011508410.1:p.Leu115Arg
XM_017002755.1:c.344T>G (LHX4) XP_016858244.1:p.Leu115Arg
XR_001737484.2:n.5250A>C (ACBD6)
XR_001737485.2:n.5233A>C (ACBD6)
XR_002957801.1:n.5152A>C (ACBD6)
XR_921977.3:n.5377A>C (ACBD6)
XR_921978.3:n.5381A>C (ACBD6)