Canonical Allele Identifier: CA2171582522
Gene: EIF2AK4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40016714T= , CM000677.2:g.40016714T= GRCh38
NC_000015.9:g.40308915T= , CM000677.1:g.40308915T= GRCh37
NC_000015.8:g.38096207T= NCBI36
NG_034053.1:g.87591T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263791.10:c.3930+42T= MANE Select ENSP00000263791.5:n.3930+42T=
ENST00000263791.9:c.3930+42T= ENSP00000263791.5:n.3930+42T=
ENST00000558557.1:n.923-394T=
ENST00000558629.5:n.2847+42T=
ENST00000560855.5:c.3262+42T=
NM_001013703.3:c.3930+42T= NP_001013725.2:n.3930+42T=
XM_005254392.1:c.3930+42T= XP_005254449.1:n.3930+42T=
XM_011521599.1:c.3930+42T= XP_011519901.1:n.3930+42T=
XM_011521600.1:c.3760-394T= XP_011519902.1:n.3760-394T=
XM_005254392.3:c.3930+42T= XP_005254449.1:n.3930+42T=
XM_011521599.2:c.3930+42T= XP_011519901.1:n.3930+42T=
XM_011521600.3:c.3760-394T= XP_011519902.1:n.3760-394T=
XM_017022219.2:c.3760-394T= XP_016877708.1:n.3760-394T=
NM_001013703.4:c.3930+42T= MANE Select NP_001013725.2:n.3930+42T=