Canonical Allele Identifier: CA76522848
Gene: EIF4E3 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.71746592C>A
GRCh37 chr3:g.71795743C>A
gnomAD v3:
3:71746592 C / A
gnomAD v4:
chr3-71746592-C-A
Joint Max Group AF 0.00000488 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
dbSNP:
6801173
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.71746592C>A , CM000665.2:g.71746592C>A GRCh38
NC_000003.11:g.71795743C>A , CM000665.1:g.71795743C>A GRCh37
NC_000003.10:g.71878433C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000647725.1:c.-959+7623G>T ENSP00000497585.1:n.-959+7623G>T
ENST00000295612.7:c.-291+6871G>T ENSP00000295612.3:n.-291+6871G>T
ENST00000421769.6:c.-291+8052G>T ENSP00000411762.2:n.-291+8052G>T
ENST00000448225.5:c.-291+7623G>T ENSP00000410350.1:n.-291+7623G>T
ENST00000496214.6:c.-291+7623G>T ENSP00000417889.2:n.-291+7623G>T
NM_001134649.2:c.-291+7623G>T NP_001128121.1:n.-291+7623G>T
NM_001282886.1:c.-291+6871G>T NP_001269815.1:n.-291+6871G>T
NM_173359.4:c.-291+8052G>T NP_775495.1:n.-291+8052G>T
XM_017006282.2:c.-341+7623G>T XP_016861771.1:n.-341+7623G>T
NM_001282886.2:c.-291+6871G>T NP_001269815.1:n.-291+6871G>T
NM_173359.5:c.-291+8052G>T NP_775495.1:n.-291+8052G>T
NM_001134649.3:c.-291+7623G>T NP_001128121.1:n.-291+7623G>T
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