Canonical Allele Identifier: CA11986858
Gene: EBF1 HGNC NCBI

Linked Data

dbSNP Id: rs6895454
gnomAD v2: 5-158523167-C-T
gnomAD v3: 5-159096159-C-T
gnomAD v4: 5-159096159-C-T
MyVariant Identifiers: chr5:g.158523167C>T (hg19) chr5:g.159096159C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159096159C>T , CM000667.2:g.159096159C>T GRCh38
NC_000005.9:g.158523167C>T , CM000667.1:g.158523167C>T GRCh37
NC_000005.8:g.158455745C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000313708.11:c.355+184G>A MANE Select ENSP00000322898.6:n.355+184G>A
ENST00000313708.10:c.355+184G>A ENSP00000322898.6:n.355+184G>A
ENST00000380654.8:c.355+184G>A ENSP00000370029.4:n.355+184G>A
ENST00000517373.1:c.355+184G>A ENSP00000428020.1:n.355+184G>A
ENST00000518836.5:n.515+184G>A
ENST00000519739.5:n.123+89G>A
ENST00000522192.5:n.264+184G>A
ENST00000523315.1:n.360+184G>A
NM_001290360.1:c.355+184G>A NP_001277289.1:n.355+184G>A
NM_024007.3:c.355+184G>A NP_076870.1:n.355+184G>A
NM_182708.1:c.355+184G>A NP_874367.1:n.355+184G>A
XM_005265834.1:c.355+184G>A XP_005265891.1:n.355+184G>A
XM_011534452.1:c.355+184G>A XP_011532754.1:n.355+184G>A
XM_011534453.1:c.355+184G>A XP_011532755.1:n.355+184G>A
XM_011534454.1:c.355+184G>A XP_011532756.1:n.355+184G>A
XM_011534455.1:c.355+184G>A XP_011532757.1:n.355+184G>A
XM_011534456.1:c.241+184G>A XP_011532758.1:n.241+184G>A
NM_001290360.2:c.355+184G>A NP_001277289.1:n.355+184G>A
NM_001324101.1:c.355+184G>A NP_001311030.1:n.355+184G>A
NM_001324103.1:c.355+184G>A NP_001311032.1:n.355+184G>A
NM_001324106.1:c.355+184G>A NP_001311035.1:n.355+184G>A
NM_001324107.1:c.355+184G>A NP_001311036.1:n.355+184G>A
NM_001324108.1:c.355+184G>A NP_001311037.1:n.355+184G>A
NM_001324109.1:c.355+184G>A NP_001311038.1:n.355+184G>A
NM_001324111.1:c.-45+89G>A NP_001311040.1:n.-45+89G>A
NM_001364155.1:c.355+184G>A NP_001351084.1:n.355+184G>A
NM_001364156.1:c.241+184G>A NP_001351085.1:n.241+184G>A
NM_001364157.1:c.241+184G>A NP_001351086.1:n.241+184G>A
NM_001364158.1:c.-45+184G>A NP_001351087.1:n.-45+184G>A
NM_001364159.1:c.-45+184G>A NP_001351088.1:n.-45+184G>A
NM_024007.4:c.355+184G>A NP_076870.1:n.355+184G>A
NM_182708.2:c.355+184G>A NP_874367.1:n.355+184G>A
XM_017009192.1:c.355+184G>A XP_016864681.1:n.355+184G>A
XM_017009193.1:c.355+184G>A XP_016864682.1:n.355+184G>A
XM_017009194.1:c.355+184G>A XP_016864683.1:n.355+184G>A
XM_017009195.1:c.355+184G>A XP_016864684.1:n.355+184G>A
XM_017009196.1:c.241+184G>A XP_016864685.1:n.241+184G>A
XM_017009197.1:c.241+184G>A XP_016864686.1:n.241+184G>A
XM_017009202.1:c.355+184G>A XP_016864691.1:n.355+184G>A
XM_017009203.1:c.355+184G>A XP_016864692.1:n.355+184G>A
XM_024454390.1:c.-45+184G>A XP_024310158.1:n.-45+184G>A
XM_024454391.1:c.-45+184G>A XP_024310159.1:n.-45+184G>A
XM_024454392.1:c.-45+184G>A XP_024310160.1:n.-45+184G>A
XM_024454393.1:c.-45+184G>A XP_024310161.1:n.-45+184G>A
NM_024007.5:c.355+184G>A MANE Select NP_076870.1:n.355+184G>A
NM_001290360.3:c.355+184G>A NP_001277289.1:n.355+184G>A
NM_001324101.2:c.355+184G>A NP_001311030.1:n.355+184G>A
NM_001324103.2:c.355+184G>A NP_001311032.1:n.355+184G>A
NM_001324106.2:c.355+184G>A NP_001311035.1:n.355+184G>A
NM_001324107.2:c.355+184G>A NP_001311036.1:n.355+184G>A
NM_001324108.2:c.355+184G>A NP_001311037.1:n.355+184G>A
NM_001324109.2:c.355+184G>A NP_001311038.1:n.355+184G>A
NM_001324111.2:c.-45+89G>A NP_001311040.1:n.-45+89G>A
NM_182708.3:c.355+184G>A NP_874367.1:n.355+184G>A
NM_001364155.2:c.355+184G>A NP_001351084.1:n.355+184G>A
NM_001364156.2:c.241+184G>A NP_001351085.1:n.241+184G>A
NM_001364157.2:c.241+184G>A NP_001351086.1:n.241+184G>A
NM_001364158.2:c.-45+184G>A NP_001351087.1:n.-45+184G>A
NM_001364159.2:c.-45+184G>A NP_001351088.1:n.-45+184G>A
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