Canonical Allele Identifier: CA7473885
Gene: EIF2AK4 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.39976523T>G
GRCh37 chr15:g.40268724T>G
Revel Score:
ENST00000263791 (MANE Select) 0.889
ENST00000382727 0.889
gnomAD v2:
15:40268724 T / G
gnomAD v3:
15:39976523 T / G
gnomAD v4:
chr15-39976523-T-G
Joint Max Group AF 0.00000554 (AMR)
Exomes Max Group AF 0.00000743 (AMR)
ClinVar RCV:
RCV000488861
ClinVar Variation:
426053
dbSNP:
757852728
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39976523T>G , CM000677.2:g.39976523T>G GRCh38
NC_000015.9:g.40268724T>G , CM000677.1:g.40268724T>G GRCh37
NC_000015.8:g.38056016T>G NCBI36
NG_034053.1:g.47400T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263791.10:c.1928T>G MANE Select ENSP00000263791.5:p.Leu643Arg
ENST00000263791.9:c.1928T>G ENSP00000263791.5:p.Leu643Arg
ENST00000560855.5:c.1344T>G
NM_001013703.3:c.1928T>G NP_001013725.2:p.Leu643Arg
XM_005254392.1:c.1928T>G XP_005254449.1:p.Leu643Arg
XM_011521599.1:c.1928T>G XP_011519901.1:p.Leu643Arg
XM_011521600.1:c.1928T>G XP_011519902.1:p.Leu643Arg
XM_005254392.3:c.1928T>G XP_005254449.1:p.Leu643Arg
XM_011521599.2:c.1928T>G XP_011519901.1:p.Leu643Arg
XM_011521600.3:c.1928T>G XP_011519902.1:p.Leu643Arg
XM_017022219.2:c.1928T>G XP_016877708.1:p.Leu643Arg
NM_001013703.4:c.1928T>G MANE Select NP_001013725.2:p.Leu643Arg
Search 100 bp 5'
Search 100 bp 3'