Canonical Allele Identifier: CA2171582459
Gene: EIF2AK4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40016541T= , CM000677.2:g.40016541T= GRCh38
NC_000015.9:g.40308742T= , CM000677.1:g.40308742T= GRCh37
NC_000015.8:g.38096034T= NCBI36
NG_034053.1:g.87418T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263791.10:c.3799T= MANE Select ENSP00000263791.5:p.Leu1267=
ENST00000263791.9:c.3799T= ENSP00000263791.5:p.Leu1267=
ENST00000558557.1:n.923-567T=
ENST00000558629.5:n.2716T=
ENST00000560855.5:c.3131T=
NM_001013703.3:c.3799T= NP_001013725.2:p.Leu1267=
XM_005254392.1:c.3799T= XP_005254449.1:p.Leu1267=
XM_011521599.1:c.3799T= XP_011519901.1:p.Leu1267=
XM_011521600.1:c.3760-567T= XP_011519902.1:n.3760-567T=
XM_005254392.3:c.3799T= XP_005254449.1:p.Leu1267=
XM_011521599.2:c.3799T= XP_011519901.1:p.Leu1267=
XM_011521600.3:c.3760-567T= XP_011519902.1:n.3760-567T=
XM_017022219.2:c.3760-567T= XP_016877708.1:n.3760-567T=
NM_001013703.4:c.3799T= MANE Select NP_001013725.2:p.Leu1267=