Canonical Allele Identifier: CA327057889
Community Standard Title: NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro)
Gene: FANCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.14844945C>G , CM000685.2:g.14844945C>G GRCh38
NC_000023.10:g.14863067C>G , CM000685.1:g.14863067C>G GRCh37
NC_000023.9:g.14772988C>G NCBI36
NG_007310.1:g.33118G>C , LRG_496:g.33118G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001018113.3:c.1838G>C MANE Select NP_001018123.1:p.Arg613Pro
ENST00000650831.1:c.1838G>C MANE Select ENSP00000498215.1:p.Arg613Pro
NM_001018113.1:c.1838G>C , LRG_496t1:c.1838G>C NP_001018123.1:p.Arg613Pro
NM_001018113.2:c.1838G>C NP_001018123.1:p.Arg613Pro
NM_001324162.1:c.1838G>C NP_001311091.1:p.Arg613Pro
NM_001324162.2:c.1838G>C NP_001311091.1:p.Arg613Pro
NM_152633.2:c.1838G>C NP_689846.1:p.Arg613Pro
NM_152633.3:c.1838G>C NP_689846.1:p.Arg613Pro
NM_152633.4:c.1838G>C NP_689846.1:p.Arg613Pro
ENST00000324138.7:c.1838G>C ENSP00000326819.3:p.Arg613Pro
ENST00000398334.5:c.1838G>C ENSP00000381378.1:p.Arg613Pro
ENST00000452869.1:c.1838G>C ENSP00000397849.1:p.Arg613Pro
ENST00000452869.2:c.1838G>C ENSP00000397849.2:p.Arg613Pro
ENST00000643728.1:c.*917G>C ENSP00000495047.1:n.*917G>C
ENST00000643728.2:c.*917G>C ENSP00000495047.1:n.*917G>C
ENST00000646255.1:c.*830G>C ENSP00000494963.1:n.*830G>C
ENST00000696311.1:c.1838G>C ENSP00000512549.1:p.Arg613Pro
ENST00000696312.1:c.1838G>C ENSP00000512550.1:p.Arg613Pro
ENST00000696322.1:c.1211G>C
ENST00000696351.1:c.1838G>C ENSP00000512572.1:p.Arg613Pro
ENST00000696352.1:c.1838G>C ENSP00000512573.1:p.Arg613Pro
ENST00000696353.1:c.1838G>C ENSP00000512574.1:p.Arg613Pro
ENST00000696354.1:c.1838G>C ENSP00000512575.1:p.Arg613Pro
ENST00000696355.1:c.1497-205G>C ENSP00000512576.1:n.1497-205G>C
ENST00000696356.1:c.1838G>C ENSP00000512577.1:p.Arg613Pro
ENST00000696357.1:c.1838G>C ENSP00000512578.1:p.Arg613Pro
XM_011545470.1:c.1838G>C XP_011543772.1:p.Arg613Pro
XM_011545470.2:c.1838G>C XP_011543772.1:p.Arg613Pro
XM_017029355.2:c.1838G>C XP_016884844.1:p.Arg613Pro
XM_017029356.1:c.1838G>C XP_016884845.1:p.Arg613Pro
XR_001755672.1:n.2299G>C
XR_001755673.1:n.2091G>C
XR_001755674.1:n.1992G>C