Canonical Allele Identifier: CA245168
Gene: FANCB HGNC NCBI

Linked Data

ClinVar Variation Id: 197175
dbSNP Id: rs200161949
gnomAD v2: X-14877419-A-G
gnomAD v3: X-14859297-A-G
gnomAD v4: X-14859297-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.14859297A>G , CM000685.2:g.14859297A>G GRCh38
NC_000023.10:g.14877419A>G , CM000685.1:g.14877419A>G GRCh37
NC_000023.9:g.14787340A>G NCBI36
NG_007310.1:g.18766T>C , LRG_496:g.18766T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000452869.2:c.989T>C ENSP00000397849.2:p.Ile330Thr
ENST00000643728.2:c.*68T>C ENSP00000495047.1:n.*68T>C
ENST00000696311.1:c.989T>C ENSP00000512549.1:p.Ile330Thr
ENST00000696312.1:c.989T>C ENSP00000512550.1:p.Ile330Thr
ENST00000696322.1:c.252T>C
ENST00000696323.1:n.1335T>C
ENST00000696351.1:c.989T>C ENSP00000512572.1:p.Ile330Thr
ENST00000696352.1:c.989T>C ENSP00000512573.1:p.Ile330Thr
ENST00000696353.1:c.989T>C ENSP00000512574.1:p.Ile330Thr
ENST00000696354.1:c.989T>C ENSP00000512575.1:p.Ile330Thr
ENST00000696355.1:c.989T>C ENSP00000512576.1:p.Ile330Thr
ENST00000696356.1:c.989T>C ENSP00000512577.1:p.Ile330Thr
ENST00000696357.1:c.989T>C ENSP00000512578.1:p.Ile330Thr
ENST00000643728.1:c.*68T>C ENSP00000495047.1:n.*68T>C
ENST00000646255.1:c.*31-50T>C ENSP00000494963.1:n.*31-50T>C
ENST00000650831.1:c.989T>C MANE Select ENSP00000498215.1:p.Ile330Thr
ENST00000324138.7:c.989T>C ENSP00000326819.3:p.Ile330Thr
ENST00000398334.5:c.989T>C ENSP00000381378.1:p.Ile330Thr
ENST00000452869.1:c.989T>C ENSP00000397849.1:p.Ile330Thr
NM_001018113.1:c.989T>C , LRG_496t1:c.989T>C NP_001018123.1:p.Ile330Thr
NM_152633.2:c.989T>C NP_689846.1:p.Ile330Thr
XM_011545470.1:c.989T>C XP_011543772.1:p.Ile330Thr
NM_001018113.2:c.989T>C NP_001018123.1:p.Ile330Thr
NM_001324162.1:c.989T>C NP_001311091.1:p.Ile330Thr
NM_152633.3:c.989T>C NP_689846.1:p.Ile330Thr
XM_011545470.2:c.989T>C XP_011543772.1:p.Ile330Thr
XM_017029355.2:c.989T>C XP_016884844.1:p.Ile330Thr
XM_017029356.1:c.989T>C XP_016884845.1:p.Ile330Thr
XR_001755672.1:n.1450T>C
XR_001755673.1:n.1242T>C
XR_001755674.1:n.1143T>C
NM_001018113.3:c.989T>C MANE Select NP_001018123.1:p.Ile330Thr
NM_001324162.2:c.989T>C NP_001311091.1:p.Ile330Thr
NM_152633.4:c.989T>C NP_689846.1:p.Ile330Thr