Canonical Allele Identifier: CA391694475

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs1085307443
• gnomAD v4: 15-40003201-C-G
• MyVariant Identifiers: chr15:g.40295402C>G (hg19) ; chr15:g.40003201C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40003201C>G , CM000677.2:g.40003201C>G	GRCh38
NC_000015.9:g.40295402C>G , CM000677.1:g.40295402C>G	GRCh37
NC_000015.8:g.38082694C>G	NCBI36
NG_034053.1:g.74078C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263791.10:c.3244C>G MANE Select	ENSP00000263791.5:p.Gln1082Glu
ENST00000263791.9:c.3244C>G	ENSP00000263791.5:p.Gln1082Glu
ENST00000558557.1:n.407C>G
ENST00000558629.5:n.2161C>G
ENST00000559311.5:n.205C>G
ENST00000560855.5:c.2576C>G
NM_001013703.3:c.3244C>G	NP_001013725.2:p.Gln1082Glu
XM_005254392.1:c.3244C>G	XP_005254449.1:p.Gln1082Glu
XM_011521599.1:c.3244C>G	XP_011519901.1:p.Gln1082Glu
XM_011521600.1:c.3244C>G	XP_011519902.1:p.Gln1082Glu
XM_005254392.3:c.3244C>G	XP_005254449.1:p.Gln1082Glu
XM_011521599.2:c.3244C>G	XP_011519901.1:p.Gln1082Glu
XM_011521600.3:c.3244C>G	XP_011519902.1:p.Gln1082Glu
XM_017022219.2:c.3244C>G	XP_016877708.1:p.Gln1082Glu
NM_001013703.4:c.3244C>G MANE Select	NP_001013725.2:p.Gln1082Glu