Canonical Allele Identifier: CA7474554

Gene: EIF2AK4

Linked Data

• ClinVar Variation Id: 515404
• ClinVar RCV Id: RCV000606723 ; RCV000890824
• dbSNP Id: rs55721315
• ExAC: 15:40313144 G / T
• gnomAD v2: 15-40313144-G-T
• gnomAD v3: 15-40020943-G-T
• gnomAD v4: 15-40020943-G-T
• MyVariant Identifiers: chr15:g.40313144G>T (hg19) ; chr15:g.40020943G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40020943G>T , CM000677.2:g.40020943G>T	GRCh38
NC_000015.9:g.40313144G>T , CM000677.1:g.40313144G>T	GRCh37
NC_000015.8:g.38100436G>T	NCBI36
NG_034053.1:g.91820G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263791.10:c.4218G>T MANE Select	ENSP00000263791.5:p.Gln1406His
ENST00000263791.9:c.4218G>T	ENSP00000263791.5:p.Gln1406His
ENST00000558557.1:n.1210G>T
ENST00000558629.5:n.3135G>T
ENST00000558743.1:n.418G>T
ENST00000560855.5:c.3550G>T
NM_001013703.3:c.4218G>T	NP_001013725.2:p.Gln1406His
XM_005254392.1:c.4218G>T	XP_005254449.1:p.Gln1406His
XM_011521599.1:c.4218G>T	XP_011519901.1:p.Gln1406His
XM_011521600.1:c.4047G>T	XP_011519902.1:p.Gln1349His
XM_005254392.3:c.4218G>T	XP_005254449.1:p.Gln1406His
XM_011521599.2:c.4218G>T	XP_011519901.1:p.Gln1406His
XM_011521600.3:c.4047G>T	XP_011519902.1:p.Gln1349His
XM_017022219.2:c.4047G>T	XP_016877708.1:p.Gln1349His
NM_001013703.4:c.4218G>T MANE Select	NP_001013725.2:p.Gln1406His