Canonical Allele Identifier: CA10646022

Gene: FANCB

Linked Data

• ClinVar Variation Id: 368037
• ClinVar RCV Id: RCV000314598 ; RCV000369353
• dbSNP Id: rs149617434
• gnomAD v2: X-14891145-A-C
• gnomAD v3: X-14873023-A-C
• gnomAD v4: X-14873023-A-C
• MyVariant Identifiers: chrX:g.14891145A>C (hg19) ; chrX:g.14873023A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.14873023A>C , CM000685.2:g.14873023A>C	GRCh38
NC_000023.10:g.14891145A>C , CM000685.1:g.14891145A>C	GRCh37
NC_000023.9:g.14801066A>C	NCBI36
NG_007310.1:g.5040T>G , LRG_496:g.5040T>G
NG_017159.1:g.4619A>C
NG_017159.2:g.4619A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452869.2:c.-229T>G	ENSP00000397849.2:n.-229T>G
ENST00000643728.2:c.-229T>G	ENSP00000495047.1:n.-229T>G
ENST00000696311.1:c.-229T>G	ENSP00000512549.1:n.-229T>G
ENST00000696312.1:c.-208T>G	ENSP00000512550.1:n.-208T>G
ENST00000696313.1:c.-87T>G	ENSP00000512551.1:n.-87T>G
ENST00000696323.1:n.37T>G
ENST00000696351.1:c.-229T>G	ENSP00000512572.1:n.-229T>G
ENST00000696352.1:c.-229T>G	ENSP00000512573.1:n.-229T>G
ENST00000696353.1:c.-229T>G	ENSP00000512574.1:n.-229T>G
ENST00000696354.1:c.-138T>G	ENSP00000512575.1:n.-138T>G
ENST00000696355.1:c.-229T>G	ENSP00000512576.1:n.-229T>G
ENST00000696356.1:c.-251T>G	ENSP00000512577.1:n.-251T>G
ENST00000696357.1:c.-138T>G	ENSP00000512578.1:n.-138T>G
ENST00000650831.1:c.-229T>G MANE Select	ENSP00000498215.1:n.-229T>G
ENST00000324138.7:c.-108T>G	ENSP00000326819.3:n.-108T>G
ENST00000398334.5:c.-229T>G	ENSP00000381378.1:n.-229T>G
ENST00000452869.1:c.-229T>G	ENSP00000397849.1:n.-229T>G
NM_001018113.1:c.-229T>G , LRG_496t1:c.-229T>G	NP_001018123.1:n.-229T>G
NM_152633.2:c.-108T>G	NP_689846.1:n.-108T>G
XM_011545470.1:c.-229T>G	XP_011543772.1:n.-229T>G
NM_001018113.2:c.-229T>G	NP_001018123.1:n.-229T>G
NM_001324162.1:c.-208T>G	NP_001311091.1:n.-208T>G
NM_152633.3:c.-108T>G	NP_689846.1:n.-108T>G
NR_136707.1:n.47T>G
XM_011545470.2:c.-229T>G	XP_011543772.1:n.-229T>G
XM_017029355.2:c.-138T>G	XP_016884844.1:n.-138T>G
XM_017029356.1:c.-229T>G	XP_016884845.1:n.-229T>G
XR_001755672.1:n.233T>G
XR_001755674.1:n.47T>G
NM_001018113.3:c.-229T>G MANE Select	NP_001018123.1:n.-229T>G
NM_001324162.2:c.-208T>G	NP_001311091.1:n.-208T>G
NM_152633.4:c.-108T>G	NP_689846.1:n.-108T>G
NR_136707.2:n.47T>G