Canonical Allele Identifier: CA10651750

Gene: FANCB

Linked Data

• ClinVar Variation Id: 368038
• ClinVar RCV Id: RCV000274513 ; RCV000329862
• dbSNP Id: rs1020271259
• gnomAD v3: X-14873024-T-A
• gnomAD v4: X-14873024-T-A
• MyVariant Identifiers: chrX:g.14891146T>A (hg19) ; chrX:g.14873024T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.14873024T>A , CM000685.2:g.14873024T>A	GRCh38
NC_000023.10:g.14891146T>A , CM000685.1:g.14891146T>A	GRCh37
NC_000023.9:g.14801067T>A	NCBI36
NG_007310.1:g.5039A>T , LRG_496:g.5039A>T
NG_017159.1:g.4620T>A
NG_017159.2:g.4620T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452869.2:c.-230A>T	ENSP00000397849.2:n.-230A>T
ENST00000643728.2:c.-230A>T	ENSP00000495047.1:n.-230A>T
ENST00000696311.1:c.-230A>T	ENSP00000512549.1:n.-230A>T
ENST00000696312.1:c.-209A>T	ENSP00000512550.1:n.-209A>T
ENST00000696313.1:c.-88A>T	ENSP00000512551.1:n.-88A>T
ENST00000696323.1:n.36A>T
ENST00000696351.1:c.-230A>T	ENSP00000512572.1:n.-230A>T
ENST00000696352.1:c.-230A>T	ENSP00000512573.1:n.-230A>T
ENST00000696353.1:c.-230A>T	ENSP00000512574.1:n.-230A>T
ENST00000696354.1:c.-139A>T	ENSP00000512575.1:n.-139A>T
ENST00000696355.1:c.-230A>T	ENSP00000512576.1:n.-230A>T
ENST00000696356.1:c.-252A>T	ENSP00000512577.1:n.-252A>T
ENST00000696357.1:c.-139A>T	ENSP00000512578.1:n.-139A>T
ENST00000650831.1:c.-230A>T MANE Select	ENSP00000498215.1:n.-230A>T
ENST00000324138.7:c.-109A>T	ENSP00000326819.3:n.-109A>T
ENST00000398334.5:c.-230A>T	ENSP00000381378.1:n.-230A>T
ENST00000452869.1:c.-230A>T	ENSP00000397849.1:n.-230A>T
NM_001018113.1:c.-230A>T , LRG_496t1:c.-230A>T	NP_001018123.1:n.-230A>T
NM_152633.2:c.-109A>T	NP_689846.1:n.-109A>T
XM_011545470.1:c.-230A>T	XP_011543772.1:n.-230A>T
NM_001018113.2:c.-230A>T	NP_001018123.1:n.-230A>T
NM_001324162.1:c.-209A>T	NP_001311091.1:n.-209A>T
NM_152633.3:c.-109A>T	NP_689846.1:n.-109A>T
NR_136707.1:n.46A>T
XM_011545470.2:c.-230A>T	XP_011543772.1:n.-230A>T
XM_017029355.2:c.-139A>T	XP_016884844.1:n.-139A>T
XM_017029356.1:c.-230A>T	XP_016884845.1:n.-230A>T
XR_001755672.1:n.232A>T
XR_001755674.1:n.46A>T
NM_001018113.3:c.-230A>T MANE Select	NP_001018123.1:n.-230A>T
NM_001324162.2:c.-209A>T	NP_001311091.1:n.-209A>T
NM_152633.4:c.-109A>T	NP_689846.1:n.-109A>T
NR_136707.2:n.46A>T