Canonical Allele Identifier: CA391696631
Gene: EIF2AK4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40016592A>C , CM000677.2:g.40016592A>C GRCh38
NC_000015.9:g.40308793A>C , CM000677.1:g.40308793A>C GRCh37
NC_000015.8:g.38096085A>C NCBI36
NG_034053.1:g.87469A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263791.10:c.3850A>C MANE Select ENSP00000263791.5:p.Ile1284Leu
ENST00000263791.9:c.3850A>C ENSP00000263791.5:p.Ile1284Leu
ENST00000558557.1:n.923-516A>C
ENST00000558629.5:n.2767A>C
ENST00000560855.5:c.3182A>C
NM_001013703.3:c.3850A>C NP_001013725.2:p.Ile1284Leu
XM_005254392.1:c.3850A>C XP_005254449.1:p.Ile1284Leu
XM_011521599.1:c.3850A>C XP_011519901.1:p.Ile1284Leu
XM_011521600.1:c.3760-516A>C XP_011519902.1:n.3760-516A>C
XM_005254392.3:c.3850A>C XP_005254449.1:p.Ile1284Leu
XM_011521599.2:c.3850A>C XP_011519901.1:p.Ile1284Leu
XM_011521600.3:c.3760-516A>C XP_011519902.1:n.3760-516A>C
XM_017022219.2:c.3760-516A>C XP_016877708.1:n.3760-516A>C
NM_001013703.4:c.3850A>C MANE Select NP_001013725.2:p.Ile1284Leu