Canonical Allele Identifier: CA489702676

Gene: EIF2AK4

Linked Data

• gnomAD v4: 15-40016558-A-G
• MyVariant Identifiers: chr15:g.40308759A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016558A>G , CM000677.2:g.40016558A>G	GRCh38
NC_000015.9:g.40308759A>G , CM000677.1:g.40308759A>G	GRCh37
NC_000015.8:g.38096051A>G	NCBI36
NG_034053.1:g.87435A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3816A>G MANE Select	ENSP00000263791.5:p.Pro1272=
ENST00000263791.9:c.3816A>G	ENSP00000263791.5:p.Pro1272=
ENST00000558557.1:n.923-550A>G
ENST00000558629.5:n.2733A>G
ENST00000560855.5:c.3148A>G
NM_001013703.3:c.3816A>G	NP_001013725.2:p.Pro1272=
XM_005254392.1:c.3816A>G	XP_005254449.1:p.Pro1272=
XM_011521599.1:c.3816A>G	XP_011519901.1:p.Pro1272=
XM_011521600.1:c.3760-550A>G	XP_011519902.1:n.3760-550A>G
XM_005254392.3:c.3816A>G	XP_005254449.1:p.Pro1272=
XM_011521599.2:c.3816A>G	XP_011519901.1:p.Pro1272=
XM_011521600.3:c.3760-550A>G	XP_011519902.1:n.3760-550A>G
XM_017022219.2:c.3760-550A>G	XP_016877708.1:n.3760-550A>G
NM_001013703.4:c.3816A>G MANE Select	NP_001013725.2:p.Pro1272=