Canonical Allele Identifier: CA397485642

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89744993G>A , CM000678.2:g.89744993G>A	GRCh38
NC_000016.9:g.89811401G>A , CM000678.1:g.89811401G>A	GRCh37
NC_000016.8:g.88338902G>A	NCBI36
NG_011706.1:g.76665C>T , LRG_495:g.76665C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.3592C>T MANE Select	NP_000126.2:p.Gln1198Ter
ENST00000389301.8:c.3592C>T MANE Select	ENSP00000373952.3:p.Gln1198Ter
NM_000135.2:c.3592C>T , LRG_495t1:c.3592C>T	NP_000126.2:p.Gln1198Ter
NM_000135.3:c.3592C>T	NP_000126.2:p.Gln1198Ter
NM_001286167.1:c.3592C>T	NP_001273096.1:p.Gln1198Ter
NM_001286167.2:c.3592C>T	NP_001273096.1:p.Gln1198Ter
NM_001286167.3:c.3592C>T	NP_001273096.1:p.Gln1198Ter
ENST00000305699.15:n.835C>T
ENST00000389301.7:c.3592C>T	ENSP00000373952.3:p.Gln1198Ter
ENST00000561667.2:c.*2070C>T	ENSP00000512522.1:n.*2070C>T
ENST00000564475.6:c.3592C>T	ENSP00000454977.2:p.Gln1198Ter
ENST00000564969.5:n.16C>T
ENST00000567510.2:c.2162C>T	ENSP00000455969.1:n.2162C>T
ENST00000567879.5:c.70C>T	ENSP00000457006.1:p.Gln24Ter
ENST00000567988.5:c.844C>T
ENST00000568369.5:c.3592C>T	ENSP00000456829.1:p.Gln1198Ter
ENST00000568369.6:c.3592C>T	ENSP00000456829.1:p.Gln1198Ter
ENST00000568626.1:c.440C>T
ENST00000568983.5:n.420C>T
ENST00000568983.6:n.611C>T
ENST00000696274.1:n.3553C>T
ENST00000696275.1:c.*2827C>T	ENSP00000512517.1:n.*2827C>T
ENST00000696286.1:c.3592C>T	ENSP00000512523.1:p.Gln1198Ter
ENST00000696287.1:c.3463C>T	ENSP00000512524.1:p.Gln1155Ter
ENST00000696291.1:c.*3024C>T	ENSP00000512530.1:n.*3024C>T
XM_005256294.3:c.3592C>T	XP_005256351.1:p.Gln1198Ter
XM_005256294.4:c.3592C>T	XP_005256351.1:p.Gln1198Ter
XM_011522945.1:c.3463C>T	XP_011521247.1:p.Gln1155Ter
XM_011522945.2:c.3463C>T	XP_011521247.1:p.Gln1155Ter
XM_011522946.1:c.2569C>T	XP_011521248.1:p.Gln857Ter
XM_011522946.3:c.2569C>T	XP_011521248.1:p.Gln857Ter
XM_011522947.1:c.2569C>T	XP_011521249.1:p.Gln857Ter
XM_011522947.2:c.2569C>T	XP_011521249.1:p.Gln857Ter
XM_017023044.2:c.3463C>T	XP_016878533.1:p.Gln1155Ter
XM_024450189.1:c.2569C>T	XP_024305957.1:p.Gln857Ter
XR_001751866.1:n.3462C>T
XR_933244.1:n.3635C>T
XR_933244.2:n.3635C>T
XR_933245.1:n.3635C>T
XR_933245.2:n.3635C>T
XR_933246.1:n.3462C>T