Canonical Allele Identifier: CA391685800
Gene: EIF2AK4 HGNC NCBI

Linked Data

ClinVar Variation Id: 426055
ClinVar RCV Id: RCV000488727
dbSNP Id: rs1085307441

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39978148G>A , CM000677.2:g.39978148G>A GRCh38
NC_000015.9:g.40270349G>A , CM000677.1:g.40270349G>A GRCh37
NC_000015.8:g.38057641G>A NCBI36
NG_034053.1:g.49025G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263791.10:c.2319+1G>A MANE Select ENSP00000263791.5:n.2319+1G>A
ENST00000263791.9:c.2319+1G>A ENSP00000263791.5:n.2319+1G>A
ENST00000560855.5:c.1735+1G>A
ENST00000624709.1:n.1170G>A
NM_001013703.3:c.2319+1G>A NP_001013725.2:n.2319+1G>A
XM_005254392.1:c.2319+1G>A XP_005254449.1:n.2319+1G>A
XM_011521599.1:c.2319+1G>A XP_011519901.1:n.2319+1G>A
XM_011521600.1:c.2319+1G>A XP_011519902.1:n.2319+1G>A
XM_005254392.3:c.2319+1G>A XP_005254449.1:n.2319+1G>A
XM_011521599.2:c.2319+1G>A XP_011519901.1:n.2319+1G>A
XM_011521600.3:c.2319+1G>A XP_011519902.1:n.2319+1G>A
XM_017022219.2:c.2319+1G>A XP_016877708.1:n.2319+1G>A
NM_001013703.4:c.2319+1G>A MANE Select NP_001013725.2:n.2319+1G>A