Canonical Allele Identifier: CA2627755698
Gene: EIF2AK4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40016735A>G , CM000677.2:g.40016735A>G GRCh38
NC_000015.9:g.40308936A>G , CM000677.1:g.40308936A>G GRCh37
NC_000015.8:g.38096228A>G NCBI36
NG_034053.1:g.87612A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263791.10:c.3930+63A>G MANE Select ENSP00000263791.5:n.3930+63A>G
ENST00000263791.9:c.3930+63A>G ENSP00000263791.5:n.3930+63A>G
ENST00000558557.1:n.923-373A>G
ENST00000558629.5:n.2847+63A>G
ENST00000560855.5:c.3262+63A>G
NM_001013703.3:c.3930+63A>G NP_001013725.2:n.3930+63A>G
XM_005254392.1:c.3930+63A>G XP_005254449.1:n.3930+63A>G
XM_011521599.1:c.3930+63A>G XP_011519901.1:n.3930+63A>G
XM_011521600.1:c.3760-373A>G XP_011519902.1:n.3760-373A>G
XM_005254392.3:c.3930+63A>G XP_005254449.1:n.3930+63A>G
XM_011521599.2:c.3930+63A>G XP_011519901.1:n.3930+63A>G
XM_011521600.3:c.3760-373A>G XP_011519902.1:n.3760-373A>G
XM_017022219.2:c.3760-373A>G XP_016877708.1:n.3760-373A>G
NM_001013703.4:c.3930+63A>G MANE Select NP_001013725.2:n.3930+63A>G