Canonical Allele Identifier: CA397443331

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89769891A>G , CM000678.2:g.89769891A>G	GRCh38
NC_000016.9:g.89836299A>G , CM000678.1:g.89836299A>G	GRCh37
NC_000016.8:g.88363800A>G	NCBI36
NG_011706.1:g.51767T>C , LRG_495:g.51767T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.2450T>C MANE Select	NP_000126.2:p.Leu817Pro
ENST00000389301.8:c.2450T>C MANE Select	ENSP00000373952.3:p.Leu817Pro
NM_000135.2:c.2450T>C , LRG_495t1:c.2450T>C	NP_000126.2:p.Leu817Pro
NM_000135.3:c.2450T>C	NP_000126.2:p.Leu817Pro
NM_001286167.1:c.2450T>C	NP_001273096.1:p.Leu817Pro
NM_001286167.2:c.2450T>C	NP_001273096.1:p.Leu817Pro
NM_001286167.3:c.2450T>C	NP_001273096.1:p.Leu817Pro
ENST00000389301.7:c.2450T>C	ENSP00000373952.3:p.Leu817Pro
ENST00000561667.2:c.*944T>C	ENSP00000512522.1:n.*944T>C
ENST00000564475.6:c.2450T>C	ENSP00000454977.2:p.Leu817Pro
ENST00000567205.1:c.134T>C	ENSP00000457027.1:p.Leu45Pro
ENST00000567205.2:c.2450T>C	ENSP00000457027.2:p.Leu817Pro
ENST00000567510.2:c.1149T>C	ENSP00000455969.1:n.1149T>C
ENST00000568369.5:c.2450T>C	ENSP00000456829.1:p.Leu817Pro
ENST00000568369.6:c.2450T>C	ENSP00000456829.1:p.Leu817Pro
ENST00000696274.1:n.2411T>C
ENST00000696275.1:c.*1685T>C	ENSP00000512517.1:n.*1685T>C
ENST00000696276.1:n.2493T>C
ENST00000696286.1:c.2450T>C	ENSP00000512523.1:p.Leu817Pro
ENST00000696287.1:c.2450T>C	ENSP00000512524.1:p.Leu817Pro
ENST00000696291.1:c.*2170T>C	ENSP00000512530.1:n.*2170T>C
XM_005256294.3:c.2450T>C	XP_005256351.1:p.Leu817Pro
XM_005256294.4:c.2450T>C	XP_005256351.1:p.Leu817Pro
XM_011522945.1:c.2450T>C	XP_011521247.1:p.Leu817Pro
XM_011522945.2:c.2450T>C	XP_011521247.1:p.Leu817Pro
XM_011522946.1:c.1427T>C	XP_011521248.1:p.Leu476Pro
XM_011522946.3:c.1427T>C	XP_011521248.1:p.Leu476Pro
XM_011522947.1:c.1427T>C	XP_011521249.1:p.Leu476Pro
XM_011522947.2:c.1427T>C	XP_011521249.1:p.Leu476Pro
XM_017023044.2:c.2450T>C	XP_016878533.1:p.Leu817Pro
XM_017023045.1:c.2450T>C	XP_016878534.1:p.Leu817Pro
XM_024450189.1:c.1427T>C	XP_024305957.1:p.Leu476Pro
XR_001751866.1:n.2493T>C
XR_933244.1:n.2493T>C
XR_933244.2:n.2493T>C
XR_933245.1:n.2493T>C
XR_933245.2:n.2493T>C
XR_933246.1:n.2493T>C
XR_933247.1:n.2493T>C
XR_933247.2:n.2493T>C