Canonical Allele Identifier: CA397438096

Gene: FANCA

Linked Data

• dbSNP Id: rs1390876848
• gnomAD v2: 16-89831337-G-C
• gnomAD v3: 16-89764929-G-C
• gnomAD v4: 16-89764929-G-C
• MyVariant Identifiers: chr16:g.89831337G>C (hg19) ; chr16:g.89764929G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89764929G>C , CM000678.2:g.89764929G>C	GRCh38
NC_000016.9:g.89831337G>C , CM000678.1:g.89831337G>C	GRCh37
NC_000016.8:g.88358838G>C	NCBI36
NG_011706.1:g.56729C>G , LRG_495:g.56729C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*1233C>G	ENSP00000512522.1:n.*1233C>G
ENST00000564475.6:c.2739C>G	ENSP00000454977.2:p.His913Gln
ENST00000567510.2:c.1438C>G	ENSP00000455969.1:n.1438C>G
ENST00000568369.6:c.2739C>G	ENSP00000456829.1:p.His913Gln
ENST00000696274.1:n.2700C>G
ENST00000696275.1:c.*1974C>G	ENSP00000512517.1:n.*1974C>G
ENST00000696276.1:n.2782C>G
ENST00000696286.1:c.2739C>G	ENSP00000512523.1:p.His913Gln
ENST00000696287.1:c.2739C>G	ENSP00000512524.1:p.His913Gln
ENST00000696291.1:c.*2459C>G	ENSP00000512530.1:n.*2459C>G
ENST00000389301.8:c.2739C>G MANE Select	ENSP00000373952.3:p.His913Gln
ENST00000305699.15:n.111C>G
ENST00000389301.7:c.2739C>G	ENSP00000373952.3:p.His913Gln
ENST00000561660.1:c.116C>G
ENST00000563318.1:c.145C>G
ENST00000563510.5:c.19C>G
ENST00000567988.5:c.76C>G
ENST00000568369.5:c.2739C>G	ENSP00000456829.1:p.His913Gln
NM_000135.2:c.2739C>G , LRG_495t1:c.2739C>G	NP_000126.2:p.His913Gln
NM_001286167.1:c.2739C>G	NP_001273096.1:p.His913Gln
XM_005256294.3:c.2739C>G	XP_005256351.1:p.His913Gln
XM_011522945.1:c.2739C>G	XP_011521247.1:p.His913Gln
XM_011522946.1:c.1716C>G	XP_011521248.1:p.His572Gln
XM_011522947.1:c.1716C>G	XP_011521249.1:p.His572Gln
XR_933244.1:n.2782C>G
XR_933245.1:n.2782C>G
XR_933246.1:n.2782C>G
NM_000135.3:c.2739C>G	NP_000126.2:p.His913Gln
NM_001286167.2:c.2739C>G	NP_001273096.1:p.His913Gln
XM_005256294.4:c.2739C>G	XP_005256351.1:p.His913Gln
XM_011522945.2:c.2739C>G	XP_011521247.1:p.His913Gln
XM_011522946.3:c.1716C>G	XP_011521248.1:p.His572Gln
XM_011522947.2:c.1716C>G	XP_011521249.1:p.His572Gln
XM_017023044.2:c.2739C>G	XP_016878533.1:p.His913Gln
XM_017023045.1:c.2739C>G	XP_016878534.1:p.His913Gln
XM_024450189.1:c.1716C>G	XP_024305957.1:p.His572Gln
XR_001751866.1:n.2782C>G
XR_933244.2:n.2782C>G
XR_933245.2:n.2782C>G
XR_933247.2:n.2911C>G
NM_000135.4:c.2739C>G MANE Select	NP_000126.2:p.His913Gln
NM_001286167.3:c.2739C>G	NP_001273096.1:p.His913Gln