Canonical Allele Identifier: CA7474553

Gene: EIF2AK4

Linked Data

• ClinVar Variation Id: 381184
• ClinVar RCV Id: RCV002062400
• dbSNP Id: rs3207297
• ExAC: 15:40313141 C / T
• gnomAD v2: 15-40313141-C-T
• gnomAD v3: 15-40020940-C-T
• gnomAD v4: 15-40020940-C-T
• MyVariant Identifiers: chr15:g.40313141C>T (hg19) ; chr15:g.40020940C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40020940C>T , CM000677.2:g.40020940C>T	GRCh38
NC_000015.9:g.40313141C>T , CM000677.1:g.40313141C>T	GRCh37
NC_000015.8:g.38100433C>T	NCBI36
NG_034053.1:g.91817C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263791.10:c.4215C>T MANE Select	ENSP00000263791.5:p.Gly1405=
ENST00000263791.9:c.4215C>T	ENSP00000263791.5:p.Gly1405=
ENST00000558557.1:n.1207C>T
ENST00000558629.5:n.3132C>T
ENST00000558743.1:n.415C>T
ENST00000560855.5:c.3547C>T
NM_001013703.3:c.4215C>T	NP_001013725.2:p.Gly1405=
XM_005254392.1:c.4215C>T	XP_005254449.1:p.Gly1405=
XM_011521599.1:c.4215C>T	XP_011519901.1:p.Gly1405=
XM_011521600.1:c.4044C>T	XP_011519902.1:p.Gly1348=
XM_005254392.3:c.4215C>T	XP_005254449.1:p.Gly1405=
XM_011521599.2:c.4215C>T	XP_011519901.1:p.Gly1405=
XM_011521600.3:c.4044C>T	XP_011519902.1:p.Gly1348=
XM_017022219.2:c.4044C>T	XP_016877708.1:p.Gly1348=
NM_001013703.4:c.4215C>T MANE Select	NP_001013725.2:p.Gly1405=