Canonical Allele Identifier: CA391676970

Gene: EIF2AK4

Linked Data

• MyVariant Identifiers: chr15:g.40313143A>T (hg19) ; chr15:g.40020942A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40020942A>T , CM000677.2:g.40020942A>T	GRCh38
NC_000015.9:g.40313143A>T , CM000677.1:g.40313143A>T	GRCh37
NC_000015.8:g.38100435A>T	NCBI36
NG_034053.1:g.91819A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263791.10:c.4217A>T MANE Select	ENSP00000263791.5:p.Gln1406Leu
ENST00000263791.9:c.4217A>T	ENSP00000263791.5:p.Gln1406Leu
ENST00000558557.1:n.1209A>T
ENST00000558629.5:n.3134A>T
ENST00000558743.1:n.417A>T
ENST00000560855.5:c.3549A>T
NM_001013703.3:c.4217A>T	NP_001013725.2:p.Gln1406Leu
XM_005254392.1:c.4217A>T	XP_005254449.1:p.Gln1406Leu
XM_011521599.1:c.4217A>T	XP_011519901.1:p.Gln1406Leu
XM_011521600.1:c.4046A>T	XP_011519902.1:p.Gln1349Leu
XM_005254392.3:c.4217A>T	XP_005254449.1:p.Gln1406Leu
XM_011521599.2:c.4217A>T	XP_011519901.1:p.Gln1406Leu
XM_011521600.3:c.4046A>T	XP_011519902.1:p.Gln1349Leu
XM_017022219.2:c.4046A>T	XP_016877708.1:p.Gln1349Leu
NM_001013703.4:c.4217A>T MANE Select	NP_001013725.2:p.Gln1406Leu