Canonical Allele Identifier: CA10353219

Gene: FANCB

Linked Data

• ClinVar Variation Id: 526482
• ClinVar RCV Id: RCV000631018 ; RCV001821784
• dbSNP Id: rs142101123
• ExAC: X:14883371 C / T
• gnomAD v2: X-14883371-C-T
• gnomAD v3: X-14865249-C-T
• gnomAD v4: X-14865249-C-T
• MyVariant Identifiers: chrX:g.14883371C>T (hg19) ; chrX:g.14865249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.14865249C>T , CM000685.2:g.14865249C>T	GRCh38
NC_000023.10:g.14883371C>T , CM000685.1:g.14883371C>T	GRCh37
NC_000023.9:g.14793292C>T	NCBI36
NG_007310.1:g.12814G>A , LRG_496:g.12814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452869.2:c.262G>A	ENSP00000397849.2:p.Gly88Arg
ENST00000643728.2:c.262G>A	ENSP00000495047.1:p.Gly88Arg
ENST00000696311.1:c.262G>A	ENSP00000512549.1:p.Gly88Arg
ENST00000696312.1:c.262G>A	ENSP00000512550.1:p.Gly88Arg
ENST00000696323.1:n.527G>A
ENST00000696351.1:c.262G>A	ENSP00000512572.1:p.Gly88Arg
ENST00000696352.1:c.262G>A	ENSP00000512573.1:p.Gly88Arg
ENST00000696353.1:c.262G>A	ENSP00000512574.1:p.Gly88Arg
ENST00000696354.1:c.262G>A	ENSP00000512575.1:p.Gly88Arg
ENST00000696355.1:c.262G>A	ENSP00000512576.1:p.Gly88Arg
ENST00000696356.1:c.262G>A	ENSP00000512577.1:p.Gly88Arg
ENST00000696357.1:c.262G>A	ENSP00000512578.1:p.Gly88Arg
ENST00000643728.1:c.262G>A	ENSP00000495047.1:p.Gly88Arg
ENST00000646255.1:c.262G>A	ENSP00000494963.1:p.Gly88Arg
ENST00000650831.1:c.262G>A MANE Select	ENSP00000498215.1:p.Gly88Arg
ENST00000324138.7:c.262G>A	ENSP00000326819.3:p.Gly88Arg
ENST00000398334.5:c.262G>A	ENSP00000381378.1:p.Gly88Arg
ENST00000452869.1:c.262G>A	ENSP00000397849.1:p.Gly88Arg
NM_001018113.1:c.262G>A , LRG_496t1:c.262G>A	NP_001018123.1:p.Gly88Arg
NM_152633.2:c.262G>A	NP_689846.1:p.Gly88Arg
XM_011545470.1:c.262G>A	XP_011543772.1:p.Gly88Arg
NM_001018113.2:c.262G>A	NP_001018123.1:p.Gly88Arg
NM_001324162.1:c.262G>A	NP_001311091.1:p.Gly88Arg
NM_152633.3:c.262G>A	NP_689846.1:p.Gly88Arg
NR_136707.1:n.537G>A
XM_011545470.2:c.262G>A	XP_011543772.1:p.Gly88Arg
XM_017029355.2:c.262G>A	XP_016884844.1:p.Gly88Arg
XM_017029356.1:c.262G>A	XP_016884845.1:p.Gly88Arg
XR_001755672.1:n.723G>A
XR_001755673.1:n.515G>A
XR_001755674.1:n.416G>A
NM_001018113.3:c.262G>A MANE Select	NP_001018123.1:p.Gly88Arg
NM_001324162.2:c.262G>A	NP_001311091.1:p.Gly88Arg
NM_152633.4:c.262G>A	NP_689846.1:p.Gly88Arg
NR_136707.2:n.537G>A