Canonical Allele Identifier: CA1239219479
Gene: EFR3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25146133C= , CM000664.2:g.25146133C= GRCh38
NC_000002.11:g.25369002C= , CM000664.1:g.25369002C= GRCh37
NC_000002.10:g.25222506C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000403714.8:c.2142+1082C= MANE Select ENSP00000384081.3:n.2142+1082C=
ENST00000264719.5:c.1647+1082C= ENSP00000264719.5:n.1647+1082C=
ENST00000401432.7:c.*1037C= ENSP00000386082.3:n.*1037C=
ENST00000402191.5:c.2037+1082C= ENSP00000385832.1:n.2037+1082C=
ENST00000403714.7:c.2142+1082C= ENSP00000384081.3:n.2142+1082C=
ENST00000405108.5:c.1698+1082C= ENSP00000384454.1:n.1698+1082C=
NM_014971.1:c.2142+1082C= NP_055786.1:n.2142+1082C=
XM_011532701.1:c.2115+1082C= XP_011531003.1:n.2115+1082C=
XM_011532702.1:c.2094+1082C= XP_011531004.1:n.2094+1082C=
XM_011532703.1:c.2037+1082C= XP_011531005.1:n.2037+1082C=
NM_001319099.1:c.2037+1082C= NP_001306028.1:n.2037+1082C=
XM_011532701.3:c.2115+1082C= XP_011531003.1:n.2115+1082C=
XR_001738675.2:n.2554+1082C=
NM_014971.2:c.2142+1082C= MANE Select NP_055786.1:n.2142+1082C=
NM_001319099.2:c.2037+1082C= NP_001306028.1:n.2037+1082C=