Canonical Allele Identifier: CA2171584361
Gene: EIF2AK4 HGNC NCBI

Linked Data

dbSNP Id: rs2035377005

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40020832A>T , CM000677.2:g.40020832A>T GRCh38
NC_000015.9:g.40313033A>T , CM000677.1:g.40313033A>T GRCh37
NC_000015.8:g.38100325A>T NCBI36
NG_034053.1:g.91709A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263791.10:c.4174-67A>T MANE Select ENSP00000263791.5:n.4174-67A>T
ENST00000263791.9:c.4174-67A>T ENSP00000263791.5:n.4174-67A>T
ENST00000558557.1:n.1166-67A>T
ENST00000558629.5:n.3091-67A>T
ENST00000558743.1:n.307A>T
ENST00000560855.5:c.3506-67A>T
NM_001013703.3:c.4174-67A>T NP_001013725.2:n.4174-67A>T
XM_005254392.1:c.4174-67A>T XP_005254449.1:n.4174-67A>T
XM_011521599.1:c.4174-67A>T XP_011519901.1:n.4174-67A>T
XM_011521600.1:c.4003-67A>T XP_011519902.1:n.4003-67A>T
XM_005254392.3:c.4174-67A>T XP_005254449.1:n.4174-67A>T
XM_011521599.2:c.4174-67A>T XP_011519901.1:n.4174-67A>T
XM_011521600.3:c.4003-67A>T XP_011519902.1:n.4003-67A>T
XM_017022219.2:c.4003-67A>T XP_016877708.1:n.4003-67A>T
NM_001013703.4:c.4174-67A>T MANE Select NP_001013725.2:n.4174-67A>T