Canonical Allele Identifier: CA412442890

Gene: FANCB

Linked Data

• dbSNP Id: rs2092429818
• gnomAD v4: X-14857921-A-G
• MyVariant Identifiers: chrX:g.14876043A>G (hg19) ; chrX:g.14857921A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.14857921A>G , CM000685.2:g.14857921A>G	GRCh38
NC_000023.10:g.14876043A>G , CM000685.1:g.14876043A>G	GRCh37
NC_000023.9:g.14785964A>G	NCBI36
NG_007310.1:g.20142T>C , LRG_496:g.20142T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452869.2:c.1138T>C	ENSP00000397849.2:p.Phe380Leu
ENST00000643728.2:c.*217T>C	ENSP00000495047.1:n.*217T>C
ENST00000696311.1:c.1138T>C	ENSP00000512549.1:p.Phe380Leu
ENST00000696312.1:c.1138T>C	ENSP00000512550.1:p.Phe380Leu
ENST00000696322.1:c.401T>C
ENST00000696323.1:n.1484T>C
ENST00000696351.1:c.1138T>C	ENSP00000512572.1:p.Phe380Leu
ENST00000696352.1:c.1138T>C	ENSP00000512573.1:p.Phe380Leu
ENST00000696353.1:c.1138T>C	ENSP00000512574.1:p.Phe380Leu
ENST00000696354.1:c.1138T>C	ENSP00000512575.1:p.Phe380Leu
ENST00000696355.1:c.1138T>C	ENSP00000512576.1:p.Phe380Leu
ENST00000696356.1:c.1138T>C	ENSP00000512577.1:p.Phe380Leu
ENST00000696357.1:c.1138T>C	ENSP00000512578.1:p.Phe380Leu
ENST00000643728.1:c.*217T>C	ENSP00000495047.1:n.*217T>C
ENST00000646255.1:c.*130T>C	ENSP00000494963.1:n.*130T>C
ENST00000650831.1:c.1138T>C MANE Select	ENSP00000498215.1:p.Phe380Leu
ENST00000324138.7:c.1138T>C	ENSP00000326819.3:p.Phe380Leu
ENST00000398334.5:c.1138T>C	ENSP00000381378.1:p.Phe380Leu
ENST00000452869.1:c.1138T>C	ENSP00000397849.1:p.Phe380Leu
NM_001018113.1:c.1138T>C , LRG_496t1:c.1138T>C	NP_001018123.1:p.Phe380Leu
NM_152633.2:c.1138T>C	NP_689846.1:p.Phe380Leu
XM_011545470.1:c.1138T>C	XP_011543772.1:p.Phe380Leu
NM_001018113.2:c.1138T>C	NP_001018123.1:p.Phe380Leu
NM_001324162.1:c.1138T>C	NP_001311091.1:p.Phe380Leu
NM_152633.3:c.1138T>C	NP_689846.1:p.Phe380Leu
XM_011545470.2:c.1138T>C	XP_011543772.1:p.Phe380Leu
XM_017029355.2:c.1138T>C	XP_016884844.1:p.Phe380Leu
XM_017029356.1:c.1138T>C	XP_016884845.1:p.Phe380Leu
XR_001755672.1:n.1599T>C
XR_001755673.1:n.1391T>C
XR_001755674.1:n.1292T>C
NM_001018113.3:c.1138T>C MANE Select	NP_001018123.1:p.Phe380Leu
NM_001324162.2:c.1138T>C	NP_001311091.1:p.Phe380Leu
NM_152633.4:c.1138T>C	NP_689846.1:p.Phe380Leu