Canonical Allele Identifier: CA489967747
Gene: EIF2AK4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.40293236C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40001035C>G , CM000677.2:g.40001035C>G GRCh38
NC_000015.9:g.40293236C>G , CM000677.1:g.40293236C>G GRCh37
NC_000015.8:g.38080528C>G NCBI36
NG_034053.1:g.71912C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263791.10:c.2970C>G MANE Select ENSP00000263791.5:p.Pro990=
ENST00000263791.9:c.2970C>G ENSP00000263791.5:p.Pro990=
ENST00000558629.5:n.1887C>G
ENST00000560855.5:c.2302C>G
NM_001013703.3:c.2970C>G NP_001013725.2:p.Pro990=
XM_005254392.1:c.2970C>G XP_005254449.1:p.Pro990=
XM_011521599.1:c.2970C>G XP_011519901.1:p.Pro990=
XM_011521600.1:c.2970C>G XP_011519902.1:p.Pro990=
XM_005254392.3:c.2970C>G XP_005254449.1:p.Pro990=
XM_011521599.2:c.2970C>G XP_011519901.1:p.Pro990=
XM_011521600.3:c.2970C>G XP_011519902.1:p.Pro990=
XM_017022219.2:c.2970C>G XP_016877708.1:p.Pro990=
NM_001013703.4:c.2970C>G MANE Select NP_001013725.2:p.Pro990=