Canonical Allele Identifier: CA8252184

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89779950C>A , CM000678.2:g.89779950C>A	GRCh38
NC_000016.9:g.89846358C>A , CM000678.1:g.89846358C>A	GRCh37
NC_000016.8:g.88373859C>A	NCBI36
NG_011706.1:g.41708G>T , LRG_495:g.41708G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.1634G>T MANE Select	NP_000126.2:p.Ser545Ile
ENST00000389301.8:c.1634G>T MANE Select	ENSP00000373952.3:p.Ser545Ile
NM_000135.2:c.1634G>T , LRG_495t1:c.1634G>T	NP_000126.2:p.Ser545Ile
NM_000135.3:c.1634G>T	NP_000126.2:p.Ser545Ile
NM_001286167.1:c.1634G>T	NP_001273096.1:p.Ser545Ile
NM_001286167.2:c.1634G>T	NP_001273096.1:p.Ser545Ile
NM_001286167.3:c.1634G>T	NP_001273096.1:p.Ser545Ile
ENST00000389301.7:c.1634G>T	ENSP00000373952.3:p.Ser545Ile
ENST00000561667.2:c.1634G>T	ENSP00000512522.1:p.Ser545Ile
ENST00000564475.6:c.1634G>T	ENSP00000454977.2:p.Ser545Ile
ENST00000567205.2:c.1634G>T	ENSP00000457027.2:p.Ser545Ile
ENST00000567284.7:n.1677G>T
ENST00000567510.1:c.8G>T	ENSP00000455969.1:p.Ser3Ile
ENST00000567510.2:c.8G>T	ENSP00000455969.1:p.Ser3Ile
ENST00000568369.5:c.1634G>T	ENSP00000456829.1:p.Ser545Ile
ENST00000568369.6:c.1634G>T	ENSP00000456829.1:p.Ser545Ile
ENST00000696274.1:n.1595G>T
ENST00000696275.1:c.*869G>T	ENSP00000512517.1:n.*869G>T
ENST00000696276.1:n.1677G>T
ENST00000696286.1:c.1634G>T	ENSP00000512523.1:p.Ser545Ile
ENST00000696287.1:c.1634G>T	ENSP00000512524.1:p.Ser545Ile
ENST00000696291.1:c.*978G>T	ENSP00000512530.1:n.*978G>T
XM_005256294.3:c.1634G>T	XP_005256351.1:p.Ser545Ile
XM_005256294.4:c.1634G>T	XP_005256351.1:p.Ser545Ile
XM_011522945.1:c.1634G>T	XP_011521247.1:p.Ser545Ile
XM_011522945.2:c.1634G>T	XP_011521247.1:p.Ser545Ile
XM_011522946.1:c.611G>T	XP_011521248.1:p.Ser204Ile
XM_011522946.3:c.611G>T	XP_011521248.1:p.Ser204Ile
XM_011522947.1:c.611G>T	XP_011521249.1:p.Ser204Ile
XM_011522947.2:c.611G>T	XP_011521249.1:p.Ser204Ile
XM_011522948.1:c.1634G>T	XP_011521250.1:p.Ser545Ile
XM_011522948.2:c.1634G>T	XP_011521250.1:p.Ser545Ile
XM_017023044.2:c.1634G>T	XP_016878533.1:p.Ser545Ile
XM_017023045.1:c.1634G>T	XP_016878534.1:p.Ser545Ile
XM_024450189.1:c.611G>T	XP_024305957.1:p.Ser204Ile
XR_001751866.1:n.1677G>T
XR_933244.1:n.1677G>T
XR_933244.2:n.1677G>T
XR_933245.1:n.1677G>T
XR_933245.2:n.1677G>T
XR_933246.1:n.1677G>T
XR_933247.1:n.1677G>T
XR_933247.2:n.1677G>T