Canonical Allele Identifier: CA10352969

Gene: FANCB

Linked Data

• ClinVar Variation Id: 246613
• ClinVar RCV Id: RCV000237072 ; RCV003947807 ; RCV001820789 ; RCV003884430
• dbSNP Id: rs147255018
• ExAC: X:14862700 G / A
• gnomAD v2: X-14862700-G-A
• gnomAD v3: X-14844578-G-A
• gnomAD v4: X-14844578-G-A
• MyVariant Identifiers: chrX:g.14862700G>A (hg19) ; chrX:g.14844578G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.14844578G>A , CM000685.2:g.14844578G>A	GRCh38
NC_000023.10:g.14862700G>A , CM000685.1:g.14862700G>A	GRCh37
NC_000023.9:g.14772621G>A	NCBI36
NG_007310.1:g.33485C>T , LRG_496:g.33485C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452869.2:c.2090C>T	ENSP00000397849.2:p.Pro697Leu
ENST00000643728.2:c.*1169C>T	ENSP00000495047.1:n.*1169C>T
ENST00000696311.1:c.2090C>T	ENSP00000512549.1:p.Pro697Leu
ENST00000696312.1:c.2090C>T	ENSP00000512550.1:p.Pro697Leu
ENST00000696322.1:c.1463C>T
ENST00000696351.1:c.2090C>T	ENSP00000512572.1:p.Pro697Leu
ENST00000696352.1:c.2090C>T	ENSP00000512573.1:p.Pro697Leu
ENST00000696353.1:c.2090C>T	ENSP00000512574.1:p.Pro697Leu
ENST00000696354.1:c.2090C>T	ENSP00000512575.1:p.Pro697Leu
ENST00000696355.1:c.*120C>T	ENSP00000512576.1:n.*120C>T
ENST00000696356.1:c.2090C>T	ENSP00000512577.1:p.Pro697Leu
ENST00000696357.1:c.2090C>T	ENSP00000512578.1:p.Pro697Leu
ENST00000643728.1:c.*1169C>T	ENSP00000495047.1:n.*1169C>T
ENST00000646255.1:c.*1082C>T	ENSP00000494963.1:n.*1082C>T
ENST00000650831.1:c.2090C>T MANE Select	ENSP00000498215.1:p.Pro697Leu
ENST00000324138.7:c.2090C>T	ENSP00000326819.3:p.Pro697Leu
ENST00000398334.5:c.2090C>T	ENSP00000381378.1:p.Pro697Leu
ENST00000452869.1:c.2090C>T	ENSP00000397849.1:p.Pro697Leu
NM_001018113.1:c.2090C>T , LRG_496t1:c.2090C>T	NP_001018123.1:p.Pro697Leu
NM_152633.2:c.2090C>T	NP_689846.1:p.Pro697Leu
XM_011545470.1:c.2090C>T	XP_011543772.1:p.Pro697Leu
NM_001018113.2:c.2090C>T	NP_001018123.1:p.Pro697Leu
NM_001324162.1:c.2090C>T	NP_001311091.1:p.Pro697Leu
NM_152633.3:c.2090C>T	NP_689846.1:p.Pro697Leu
XM_011545470.2:c.2090C>T	XP_011543772.1:p.Pro697Leu
XM_017029355.2:c.2090C>T	XP_016884844.1:p.Pro697Leu
XM_017029356.1:c.2090C>T	XP_016884845.1:p.Pro697Leu
XR_001755672.1:n.2551C>T
XR_001755673.1:n.2343C>T
XR_001755674.1:n.2244C>T
NM_001018113.3:c.2090C>T MANE Select	NP_001018123.1:p.Pro697Leu
NM_001324162.2:c.2090C>T	NP_001311091.1:p.Pro697Leu
NM_152633.4:c.2090C>T	NP_689846.1:p.Pro697Leu