Canonical Allele Identifier: CA7474738
Gene: EIF2AK4 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.40032280T>C
GRCh37 chr15:g.40324481T>C
gnomAD v2:
15:40324481 T / C
gnomAD v3:
15:40032280 T / C
gnomAD v4:
chr15-40032280-T-C
Joint Max Group AF 0.43833261 (EAS)
Genomes Max Group AF 0.44079324 (EAS)
Exomes Max Group AF 0.43635967 (EAS)
ClinVar RCV:
RCV001719541
ClinVar Variation:
1296323
dbSNP:
4432245
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40032280T>C , CM000677.2:g.40032280T>C GRCh38
NC_000015.9:g.40324481T>C , CM000677.1:g.40324481T>C GRCh37
NC_000015.8:g.38111773T>C NCBI36
NG_034053.1:g.103157T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263791.10:c.4728+43T>C MANE Select ENSP00000263791.5:n.4728+43T>C
ENST00000263791.9:c.4728+43T>C ENSP00000263791.5:n.4728+43T>C
ENST00000558557.1:n.1720+43T>C
ENST00000558629.5:n.3645+43T>C
ENST00000558823.1:c.64+1824T>C
ENST00000560855.5:c.4060+43T>C
NM_001013703.3:c.4728+43T>C NP_001013725.2:n.4728+43T>C
XM_005254392.1:c.4660-477T>C XP_005254449.1:n.4660-477T>C
XM_011521599.1:c.4659+1824T>C XP_011519901.1:n.4659+1824T>C
XM_011521600.1:c.4557+43T>C XP_011519902.1:n.4557+43T>C
XM_005254392.3:c.4660-477T>C XP_005254449.1:n.4660-477T>C
XM_011521599.2:c.4659+1824T>C XP_011519901.1:n.4659+1824T>C
XM_011521600.3:c.4557+43T>C XP_011519902.1:n.4557+43T>C
XM_017022219.2:c.4488+1824T>C XP_016877708.1:n.4488+1824T>C
NM_001013703.4:c.4728+43T>C MANE Select NP_001013725.2:n.4728+43T>C
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