Canonical Allele Identifier: CA397485421

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89742871A>G , CM000678.2:g.89742871A>G	GRCh38
NC_000016.9:g.89809279A>G , CM000678.1:g.89809279A>G	GRCh37
NC_000016.8:g.88336780A>G	NCBI36
NG_011706.1:g.78787T>C , LRG_495:g.78787T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.3694T>C MANE Select	NP_000126.2:p.Phe1232Leu
ENST00000389301.8:c.3694T>C MANE Select	ENSP00000373952.3:p.Phe1232Leu
NM_000135.2:c.3694T>C , LRG_495t1:c.3694T>C	NP_000126.2:p.Phe1232Leu
NM_000135.3:c.3694T>C	NP_000126.2:p.Phe1232Leu
NM_001286167.1:c.3694T>C	NP_001273096.1:p.Phe1232Leu
NM_001286167.2:c.3694T>C	NP_001273096.1:p.Phe1232Leu
NM_001286167.3:c.3694T>C	NP_001273096.1:p.Phe1232Leu
ENST00000305699.15:n.937T>C
ENST00000389301.7:c.3694T>C	ENSP00000373952.3:p.Phe1232Leu
ENST00000561667.2:c.*2172T>C	ENSP00000512522.1:n.*2172T>C
ENST00000564475.5:c.24T>C
ENST00000564475.6:c.3694T>C	ENSP00000454977.2:p.Phe1232Leu
ENST00000564969.5:n.51-2005T>C
ENST00000567510.2:c.2264T>C	ENSP00000455969.1:n.2264T>C
ENST00000567879.5:c.172T>C	ENSP00000457006.1:p.Phe58Leu
ENST00000568369.5:c.3694T>C	ENSP00000456829.1:p.Phe1232Leu
ENST00000568369.6:c.3694T>C	ENSP00000456829.1:p.Phe1232Leu
ENST00000568626.1:c.475-2005T>C
ENST00000696274.1:n.3655T>C
ENST00000696275.1:c.*2929T>C	ENSP00000512517.1:n.*2929T>C
ENST00000696286.1:c.3694T>C	ENSP00000512523.1:p.Phe1232Leu
ENST00000696287.1:c.3565T>C	ENSP00000512524.1:p.Phe1189Leu
ENST00000696291.1:c.*3126T>C	ENSP00000512530.1:n.*3126T>C
XM_005256294.3:c.3694T>C	XP_005256351.1:p.Phe1232Leu
XM_005256294.4:c.3694T>C	XP_005256351.1:p.Phe1232Leu
XM_011522945.1:c.3565T>C	XP_011521247.1:p.Phe1189Leu
XM_011522945.2:c.3565T>C	XP_011521247.1:p.Phe1189Leu
XM_011522946.1:c.2671T>C	XP_011521248.1:p.Phe891Leu
XM_011522946.3:c.2671T>C	XP_011521248.1:p.Phe891Leu
XM_011522947.1:c.2671T>C	XP_011521249.1:p.Phe891Leu
XM_011522947.2:c.2671T>C	XP_011521249.1:p.Phe891Leu
XM_017023044.2:c.3565T>C	XP_016878533.1:p.Phe1189Leu
XM_024450189.1:c.2671T>C	XP_024305957.1:p.Phe891Leu
XR_001751866.1:n.3564T>C
XR_933244.1:n.3737T>C
XR_933244.2:n.3737T>C
XR_933245.1:n.3670-2005T>C
XR_933245.2:n.3670-2005T>C
XR_933246.1:n.3564T>C