Canonical Allele Identifier: CA10353015

Gene: FANCB

Linked Data

• dbSNP Id: rs375901101
• ExAC: X:14863217 C / A
• gnomAD v2: X-14863217-C-A
• gnomAD v3: X-14845095-C-A
• gnomAD v4: X-14845095-C-A
• MyVariant Identifiers: chrX:g.14863217C>A (hg19) ; chrX:g.14845095C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.14845095C>A , CM000685.2:g.14845095C>A	GRCh38
NC_000023.10:g.14863217C>A , CM000685.1:g.14863217C>A	GRCh37
NC_000023.9:g.14773138C>A	NCBI36
NG_007310.1:g.32968G>T , LRG_496:g.32968G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452869.2:c.1688G>T	ENSP00000397849.2:p.Ser563Ile
ENST00000643728.2:c.*767G>T	ENSP00000495047.1:n.*767G>T
ENST00000696311.1:c.1688G>T	ENSP00000512549.1:p.Ser563Ile
ENST00000696312.1:c.1688G>T	ENSP00000512550.1:p.Ser563Ile
ENST00000696322.1:c.1061G>T
ENST00000696351.1:c.1688G>T	ENSP00000512572.1:p.Ser563Ile
ENST00000696352.1:c.1688G>T	ENSP00000512573.1:p.Ser563Ile
ENST00000696353.1:c.1688G>T	ENSP00000512574.1:p.Ser563Ile
ENST00000696354.1:c.1688G>T	ENSP00000512575.1:p.Ser563Ile
ENST00000696355.1:c.1497-355G>T	ENSP00000512576.1:n.1497-355G>T
ENST00000696356.1:c.1688G>T	ENSP00000512577.1:p.Ser563Ile
ENST00000696357.1:c.1688G>T	ENSP00000512578.1:p.Ser563Ile
ENST00000643728.1:c.*767G>T	ENSP00000495047.1:n.*767G>T
ENST00000646255.1:c.*680G>T	ENSP00000494963.1:n.*680G>T
ENST00000650831.1:c.1688G>T MANE Select	ENSP00000498215.1:p.Ser563Ile
ENST00000324138.7:c.1688G>T	ENSP00000326819.3:p.Ser563Ile
ENST00000398334.5:c.1688G>T	ENSP00000381378.1:p.Ser563Ile
ENST00000452869.1:c.1688G>T	ENSP00000397849.1:p.Ser563Ile
NM_001018113.1:c.1688G>T , LRG_496t1:c.1688G>T	NP_001018123.1:p.Ser563Ile
NM_152633.2:c.1688G>T	NP_689846.1:p.Ser563Ile
XM_011545470.1:c.1688G>T	XP_011543772.1:p.Ser563Ile
NM_001018113.2:c.1688G>T	NP_001018123.1:p.Ser563Ile
NM_001324162.1:c.1688G>T	NP_001311091.1:p.Ser563Ile
NM_152633.3:c.1688G>T	NP_689846.1:p.Ser563Ile
XM_011545470.2:c.1688G>T	XP_011543772.1:p.Ser563Ile
XM_017029355.2:c.1688G>T	XP_016884844.1:p.Ser563Ile
XM_017029356.1:c.1688G>T	XP_016884845.1:p.Ser563Ile
XR_001755672.1:n.2149G>T
XR_001755673.1:n.1941G>T
XR_001755674.1:n.1842G>T
NM_001018113.3:c.1688G>T MANE Select	NP_001018123.1:p.Ser563Ile
NM_001324162.2:c.1688G>T	NP_001311091.1:p.Ser563Ile
NM_152633.4:c.1688G>T	NP_689846.1:p.Ser563Ile