Canonical Allele Identifier: CA2241896060

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89744962C= , CM000678.2:g.89744962C=	GRCh38
NC_000016.9:g.89811370C= , CM000678.1:g.89811370C=	GRCh37
NC_000016.8:g.88338871C=	NCBI36
NG_011706.1:g.76696G= , LRG_495:g.76696G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2101G=	ENSP00000512522.1:n.*2101G=
ENST00000564475.6:c.3623G=	ENSP00000454977.2:p.Ser1208=
ENST00000567510.2:c.2193G=	ENSP00000455969.1:n.2193G=
ENST00000568369.6:c.3623G=	ENSP00000456829.1:p.Ser1208=
ENST00000568983.6:n.642G=
ENST00000696274.1:n.3584G=
ENST00000696275.1:c.*2858G=	ENSP00000512517.1:n.*2858G=
ENST00000696286.1:c.3623G=	ENSP00000512523.1:p.Ser1208=
ENST00000696287.1:c.3494G=	ENSP00000512524.1:p.Ser1165=
ENST00000696291.1:c.*3055G=	ENSP00000512530.1:n.*3055G=
ENST00000389301.8:c.3623G= MANE Select	ENSP00000373952.3:p.Ser1208=
ENST00000305699.15:n.866G=
ENST00000389301.7:c.3623G=	ENSP00000373952.3:p.Ser1208=
ENST00000564969.5:n.47G=
ENST00000567879.5:c.101G=	ENSP00000457006.1:p.Ser34=
ENST00000567988.5:c.875G=
ENST00000568369.5:c.3623G=	ENSP00000456829.1:p.Ser1208=
ENST00000568626.1:c.471G=
ENST00000568983.5:n.451G=
NM_000135.2:c.3623G= , LRG_495t1:c.3623G=	NP_000126.2:p.Ser1208=
NM_001286167.1:c.3623G=	NP_001273096.1:p.Ser1208=
XM_005256294.3:c.3623G=	XP_005256351.1:p.Ser1208=
XM_011522945.1:c.3494G=	XP_011521247.1:p.Ser1165=
XM_011522946.1:c.2600G=	XP_011521248.1:p.Ser867=
XM_011522947.1:c.2600G=	XP_011521249.1:p.Ser867=
XR_933244.1:n.3666G=
XR_933245.1:n.3666G=
XR_933246.1:n.3493G=
NM_000135.3:c.3623G=	NP_000126.2:p.Ser1208=
NM_001286167.2:c.3623G=	NP_001273096.1:p.Ser1208=
XM_005256294.4:c.3623G=	XP_005256351.1:p.Ser1208=
XM_011522945.2:c.3494G=	XP_011521247.1:p.Ser1165=
XM_011522946.3:c.2600G=	XP_011521248.1:p.Ser867=
XM_011522947.2:c.2600G=	XP_011521249.1:p.Ser867=
XM_017023044.2:c.3494G=	XP_016878533.1:p.Ser1165=
XM_024450189.1:c.2600G=	XP_024305957.1:p.Ser867=
XR_001751866.1:n.3493G=
XR_933244.2:n.3666G=
XR_933245.2:n.3666G=
NM_000135.4:c.3623G= MANE Select	NP_000126.2:p.Ser1208=
NM_001286167.3:c.3623G=	NP_001273096.1:p.Ser1208=