Canonical Allele Identifier: CA268725758

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs951931639
• gnomAD v2: 15-40313081-C-T
• gnomAD v3: 15-40020880-C-T
• gnomAD v4: 15-40020880-C-T
• MyVariant Identifiers: chr15:g.40313081C>T (hg19) ; chr15:g.40020880C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40020880C>T , CM000677.2:g.40020880C>T	GRCh38
NC_000015.9:g.40313081C>T , CM000677.1:g.40313081C>T	GRCh37
NC_000015.8:g.38100373C>T	NCBI36
NG_034053.1:g.91757C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.4174-19C>T MANE Select	ENSP00000263791.5:n.4174-19C>T
ENST00000263791.9:c.4174-19C>T	ENSP00000263791.5:n.4174-19C>T
ENST00000558557.1:n.1166-19C>T
ENST00000558629.5:n.3091-19C>T
ENST00000558743.1:n.355C>T
ENST00000560855.5:c.3506-19C>T
NM_001013703.3:c.4174-19C>T	NP_001013725.2:n.4174-19C>T
XM_005254392.1:c.4174-19C>T	XP_005254449.1:n.4174-19C>T
XM_011521599.1:c.4174-19C>T	XP_011519901.1:n.4174-19C>T
XM_011521600.1:c.4003-19C>T	XP_011519902.1:n.4003-19C>T
XM_005254392.3:c.4174-19C>T	XP_005254449.1:n.4174-19C>T
XM_011521599.2:c.4174-19C>T	XP_011519901.1:n.4174-19C>T
XM_011521600.3:c.4003-19C>T	XP_011519902.1:n.4003-19C>T
XM_017022219.2:c.4003-19C>T	XP_016877708.1:n.4003-19C>T
NM_001013703.4:c.4174-19C>T MANE Select	NP_001013725.2:n.4174-19C>T