Canonical Allele Identifier: CA76515624
Gene: EIF4E3 HGNC NCBI

Linked Data

dbSNP Id: rs12629971
gnomAD v2: 3-71783318-C-T
gnomAD v3: 3-71734167-C-T
gnomAD v4: 3-71734167-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.71734167C>T , CM000665.2:g.71734167C>T GRCh38
NC_000003.11:g.71783318C>T , CM000665.1:g.71783318C>T GRCh37
NC_000003.10:g.71866008C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000647725.1:c.-958-5544G>A ENSP00000497585.1:n.-958-5544G>A
ENST00000295612.7:c.-290-5544G>A ENSP00000295612.3:n.-290-5544G>A
ENST00000421769.6:c.-290-5544G>A ENSP00000411762.2:n.-290-5544G>A
ENST00000448225.5:c.-290-5544G>A ENSP00000410350.1:n.-290-5544G>A
ENST00000496214.6:c.-290-5544G>A ENSP00000417889.2:n.-290-5544G>A
NM_001134649.2:c.-290-5544G>A NP_001128121.1:n.-290-5544G>A
NM_001282886.1:c.-290-5544G>A NP_001269815.1:n.-290-5544G>A
NM_173359.4:c.-290-5544G>A NP_775495.1:n.-290-5544G>A
XM_017006282.2:c.-340-5544G>A XP_016861771.1:n.-340-5544G>A
NM_001282886.2:c.-290-5544G>A NP_001269815.1:n.-290-5544G>A
NM_173359.5:c.-290-5544G>A NP_775495.1:n.-290-5544G>A
NM_001134649.3:c.-290-5544G>A NP_001128121.1:n.-290-5544G>A