Canonical Allele Identifier: CA150738
Gene: EIF2AK4 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.40008067C>T
GRCh37 chr15:g.40300268C>T
gnomAD v2:
15:40300268 C / T
gnomAD v3:
15:40008067 C / T
gnomAD v4:
chr15-40008067-C-T
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
107272
ClinVar RCV:
RCV000087757
ClinVar Variation:
101529
dbSNP:
587777208
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40008067C>T , CM000677.2:g.40008067C>T GRCh38
NC_000015.9:g.40300268C>T , CM000677.1:g.40300268C>T GRCh37
NC_000015.8:g.38087560C>T NCBI36
NG_034053.1:g.78944C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263791.10:c.3448C>T MANE Select ENSP00000263791.5:p.Arg1150Ter
ENST00000263791.9:c.3448C>T ENSP00000263791.5:p.Arg1150Ter
ENST00000558557.1:n.611C>T
ENST00000558629.5:n.2365C>T
ENST00000559311.5:n.409C>T
ENST00000560855.5:c.2780C>T
NM_001013703.3:c.3448C>T NP_001013725.2:p.Arg1150Ter
XM_005254392.1:c.3448C>T XP_005254449.1:p.Arg1150Ter
XM_011521599.1:c.3448C>T XP_011519901.1:p.Arg1150Ter
XM_011521600.1:c.3448C>T XP_011519902.1:p.Arg1150Ter
XM_005254392.3:c.3448C>T XP_005254449.1:p.Arg1150Ter
XM_011521599.2:c.3448C>T XP_011519901.1:p.Arg1150Ter
XM_011521600.3:c.3448C>T XP_011519902.1:p.Arg1150Ter
XM_017022219.2:c.3448C>T XP_016877708.1:p.Arg1150Ter
NM_001013703.4:c.3448C>T MANE Select NP_001013725.2:p.Arg1150Ter
Search 100 bp 5'
Search 100 bp 3'