Canonical Allele Identifier: CA2171582451
Community Standard Title: NM_001013703.4(EIF2AK4):c.3766C= (p.Arg1256=)
Gene: EIF2AK4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40016508C= , CM000677.2:g.40016508C= GRCh38
NC_000015.9:g.40308709C= , CM000677.1:g.40308709C= GRCh37
NC_000015.8:g.38096001C= NCBI36
NG_034053.1:g.87385C=

Transcript Alleles

HGVS Amino-acid Change
NM_001013703.4:c.3766C= MANE Select NP_001013725.2:p.Arg1256=
ENST00000263791.10:c.3766C= MANE Select ENSP00000263791.5:p.Arg1256=
NM_001013703.3:c.3766C= NP_001013725.2:p.Arg1256=
ENST00000263791.9:c.3766C= ENSP00000263791.5:p.Arg1256=
ENST00000558557.1:n.923-600C=
ENST00000558629.5:n.2683C=
ENST00000560855.5:c.3098C=
XM_005254392.1:c.3766C= XP_005254449.1:p.Arg1256=
XM_005254392.3:c.3766C= XP_005254449.1:p.Arg1256=
XM_011521599.1:c.3766C= XP_011519901.1:p.Arg1256=
XM_011521599.2:c.3766C= XP_011519901.1:p.Arg1256=
XM_011521600.1:c.3760-600C= XP_011519902.1:n.3760-600C=
XM_011521600.3:c.3760-600C= XP_011519902.1:n.3760-600C=
XM_017022219.2:c.3760-600C= XP_016877708.1:n.3760-600C=