Canonical Allele Identifier: CA11181261
Gene: EFR3B HGNC NCBI

Linked Data

dbSNP Id: rs1561288
gnomAD v2: 2-25369002-C-T
gnomAD v3: 2-25146133-C-T
gnomAD v4: 2-25146133-C-T

Genomic Alleles

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

Transcript Alleles

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