Canonical Allele Identifier: CA16043202
Community Standard Title: NM_001318510.2(ACSL4):c.1187G>A (p.Arg396His)
Gene: ACSL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.109668229C>T , CM000685.2:g.109668229C>T GRCh38
NC_000023.10:g.108911458C>T , CM000685.1:g.108911458C>T GRCh37
NC_000023.9:g.108798114C>T NCBI36
NG_008053.1:g.70164G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001318510.2:c.1187G>A MANE Select NP_001305439.1:p.Arg396His
ENST00000672401.1:c.1187G>A MANE Select ENSP00000500273.1:p.Arg396His
NM_001318509.1:c.1310G>A NP_001305438.1:p.Arg437His
NM_001318509.2:c.1310G>A NP_001305438.1:p.Arg437His
NM_001318510.1:c.1187G>A NP_001305439.1:p.Arg396His
NM_004458.2:c.1187G>A NP_004449.1:p.Arg396His
NM_004458.3:c.1187G>A NP_004449.1:p.Arg396His
NM_022977.2:c.1310G>A NP_075266.1:p.Arg437His
NM_022977.3:c.1310G>A NP_075266.1:p.Arg437His
ENST00000340800.6:c.1310G>A ENSP00000339787.2:p.Arg437His
ENST00000340800.7:c.1310G>A ENSP00000339787.2:p.Arg437His
ENST00000348502.10:c.1187G>A ENSP00000262835.7:p.Arg396His
ENST00000469796.6:c.1310G>A ENSP00000419171.2:p.Arg437His
ENST00000469796.7:c.1310G>A ENSP00000419171.2:p.Arg437His
ENST00000502391.6:c.1310G>A ENSP00000425408.2:p.Arg437His
ENST00000514500.1:c.121G>A
ENST00000671846.1:c.1310G>A ENSP00000500897.1:p.Arg437His
ENST00000672282.1:c.1187G>A ENSP00000500678.1:p.Arg396His
ENST00000673016.1:c.1187G>A ENSP00000499969.1:p.Arg396His
ENST00000682031.1:c.1154G>A ENSP00000506881.1:p.Arg385His
ENST00000683559.1:n.2898G>A
ENST00000684030.1:n.1703G>A
ENST00000684414.1:n.135-24043G>A
XM_005262108.1:c.1310G>A XP_005262165.1:p.Arg437His
XM_005262109.1:c.1310G>A XP_005262166.1:p.Arg437His
XM_005262109.2:c.1310G>A XP_005262166.1:p.Arg437His
XM_005262110.1:c.1187G>A XP_005262167.1:p.Arg396His
XM_006724635.1:c.1187G>A XP_006724698.1:p.Arg396His
XM_006724635.2:c.1187G>A XP_006724698.1:p.Arg396His
XM_011530888.1:c.1310G>A XP_011529190.1:p.Arg437His
XM_011530888.2:c.1310G>A XP_011529190.1:p.Arg437His
XM_011530889.1:c.1310G>A XP_011529191.1:p.Arg437His
XM_011530889.2:c.1310G>A XP_011529191.1:p.Arg437His
XM_024452351.1:c.1328G>A XP_024308119.1:p.Arg443His