Canonical Allele Identifier: CA412439766

Gene: FANCB

Linked Data

• gnomAD v4: X-14845062-C-G
• MyVariant Identifiers: chrX:g.14863184C>G (hg19) ; chrX:g.14845062C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.14845062C>G , CM000685.2:g.14845062C>G	GRCh38
NC_000023.10:g.14863184C>G , CM000685.1:g.14863184C>G	GRCh37
NC_000023.9:g.14773105C>G	NCBI36
NG_007310.1:g.33001G>C , LRG_496:g.33001G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452869.2:c.1721G>C	ENSP00000397849.2:p.Cys574Ser
ENST00000643728.2:c.*800G>C	ENSP00000495047.1:n.*800G>C
ENST00000696311.1:c.1721G>C	ENSP00000512549.1:p.Cys574Ser
ENST00000696312.1:c.1721G>C	ENSP00000512550.1:p.Cys574Ser
ENST00000696322.1:c.1094G>C
ENST00000696351.1:c.1721G>C	ENSP00000512572.1:p.Cys574Ser
ENST00000696352.1:c.1721G>C	ENSP00000512573.1:p.Cys574Ser
ENST00000696353.1:c.1721G>C	ENSP00000512574.1:p.Cys574Ser
ENST00000696354.1:c.1721G>C	ENSP00000512575.1:p.Cys574Ser
ENST00000696355.1:c.1497-322G>C	ENSP00000512576.1:n.1497-322G>C
ENST00000696356.1:c.1721G>C	ENSP00000512577.1:p.Cys574Ser
ENST00000696357.1:c.1721G>C	ENSP00000512578.1:p.Cys574Ser
ENST00000643728.1:c.*800G>C	ENSP00000495047.1:n.*800G>C
ENST00000646255.1:c.*713G>C	ENSP00000494963.1:n.*713G>C
ENST00000650831.1:c.1721G>C MANE Select	ENSP00000498215.1:p.Cys574Ser
ENST00000324138.7:c.1721G>C	ENSP00000326819.3:p.Cys574Ser
ENST00000398334.5:c.1721G>C	ENSP00000381378.1:p.Cys574Ser
ENST00000452869.1:c.1721G>C	ENSP00000397849.1:p.Cys574Ser
NM_001018113.1:c.1721G>C , LRG_496t1:c.1721G>C	NP_001018123.1:p.Cys574Ser
NM_152633.2:c.1721G>C	NP_689846.1:p.Cys574Ser
XM_011545470.1:c.1721G>C	XP_011543772.1:p.Cys574Ser
NM_001018113.2:c.1721G>C	NP_001018123.1:p.Cys574Ser
NM_001324162.1:c.1721G>C	NP_001311091.1:p.Cys574Ser
NM_152633.3:c.1721G>C	NP_689846.1:p.Cys574Ser
XM_011545470.2:c.1721G>C	XP_011543772.1:p.Cys574Ser
XM_017029355.2:c.1721G>C	XP_016884844.1:p.Cys574Ser
XM_017029356.1:c.1721G>C	XP_016884845.1:p.Cys574Ser
XR_001755672.1:n.2182G>C
XR_001755673.1:n.1974G>C
XR_001755674.1:n.1875G>C
NM_001018113.3:c.1721G>C MANE Select	NP_001018123.1:p.Cys574Ser
NM_001324162.2:c.1721G>C	NP_001311091.1:p.Cys574Ser
NM_152633.4:c.1721G>C	NP_689846.1:p.Cys574Ser