Canonical Allele Identifier: CA515636828
Community Standard Title: NM_001018113.3(FANCB):c.2340T>C (p.His780=)
Gene: FANCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.14843807A>G , CM000685.2:g.14843807A>G GRCh38
NC_000023.10:g.14861929A>G , CM000685.1:g.14861929A>G GRCh37
NC_000023.9:g.14771850A>G NCBI36
NG_007310.1:g.34256T>C , LRG_496:g.34256T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001018113.3:c.2340T>C MANE Select NP_001018123.1:p.His780=
ENST00000650831.1:c.2340T>C MANE Select ENSP00000498215.1:p.His780=
NM_001018113.1:c.2340T>C , LRG_496t1:c.2340T>C NP_001018123.1:p.His780=
NM_001018113.2:c.2340T>C NP_001018123.1:p.His780=
NM_001324162.1:c.2340T>C NP_001311091.1:p.His780=
NM_001324162.2:c.2340T>C NP_001311091.1:p.His780=
NM_152633.2:c.2340T>C NP_689846.1:p.His780=
NM_152633.3:c.2340T>C NP_689846.1:p.His780=
NM_152633.4:c.2340T>C NP_689846.1:p.His780=
ENST00000324138.7:c.2340T>C ENSP00000326819.3:p.His780=
ENST00000398334.5:c.2340T>C ENSP00000381378.1:p.His780=
ENST00000452869.1:c.2340T>C ENSP00000397849.1:p.His780=
ENST00000452869.2:c.2340T>C ENSP00000397849.2:p.His780=
ENST00000643728.1:c.*1419T>C ENSP00000495047.1:n.*1419T>C
ENST00000643728.2:c.*1419T>C ENSP00000495047.1:n.*1419T>C
ENST00000646255.1:c.*1332T>C ENSP00000494963.1:n.*1332T>C
ENST00000696311.1:c.2340T>C ENSP00000512549.1:p.His780=
ENST00000696312.1:c.2340T>C ENSP00000512550.1:p.His780=
ENST00000696322.1:c.1713T>C
ENST00000696351.1:c.2340T>C ENSP00000512572.1:p.His780=
ENST00000696352.1:c.2340T>C ENSP00000512573.1:p.His780=
ENST00000696353.1:c.2340T>C ENSP00000512574.1:p.His780=
ENST00000696354.1:c.2340T>C ENSP00000512575.1:p.His780=
ENST00000696355.1:c.*370T>C ENSP00000512576.1:n.*370T>C
ENST00000696356.1:c.2340T>C ENSP00000512577.1:p.His780=
ENST00000696357.1:c.2340T>C ENSP00000512578.1:p.His780=
XM_011545470.1:c.2340T>C XP_011543772.1:p.His780=
XM_011545470.2:c.2340T>C XP_011543772.1:p.His780=
XM_017029355.2:c.2340T>C XP_016884844.1:p.His780=
XM_017029356.1:c.2340T>C XP_016884845.1:p.His780=
XR_001755672.1:n.2801T>C
XR_001755673.1:n.2593T>C
XR_001755674.1:n.2494T>C