Canonical Allele Identifier: CA397426441

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89752210A>C , CM000678.2:g.89752210A>C	GRCh38
NC_000016.9:g.89818618A>C , CM000678.1:g.89818618A>C	GRCh37
NC_000016.8:g.88346119A>C	NCBI36
NG_011706.1:g.69448T>G , LRG_495:g.69448T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.2994T>G MANE Select	NP_000126.2:p.Tyr998Ter
ENST00000389301.8:c.2994T>G MANE Select	ENSP00000373952.3:p.Tyr998Ter
NM_000135.2:c.2994T>G , LRG_495t1:c.2994T>G	NP_000126.2:p.Tyr998Ter
NM_000135.3:c.2994T>G	NP_000126.2:p.Tyr998Ter
NM_001286167.1:c.2994T>G	NP_001273096.1:p.Tyr998Ter
NM_001286167.2:c.2994T>G	NP_001273096.1:p.Tyr998Ter
NM_001286167.3:c.2994T>G	NP_001273096.1:p.Tyr998Ter
ENST00000305699.15:n.237T>G
ENST00000389301.7:c.2994T>G	ENSP00000373952.3:p.Tyr998Ter
ENST00000561660.1:c.371T>G
ENST00000561667.2:c.*1472T>G	ENSP00000512522.1:n.*1472T>G
ENST00000563318.1:c.556T>G
ENST00000563510.5:c.384T>G
ENST00000564475.6:c.2994T>G	ENSP00000454977.2:p.Tyr998Ter
ENST00000567510.2:c.1564T>G	ENSP00000455969.1:n.1564T>G
ENST00000567988.5:c.319-2308T>G
ENST00000568369.5:c.2994T>G	ENSP00000456829.1:p.Tyr998Ter
ENST00000568369.6:c.2994T>G	ENSP00000456829.1:p.Tyr998Ter
ENST00000568983.6:n.13T>G
ENST00000696274.1:n.2955T>G
ENST00000696275.1:c.*2229T>G	ENSP00000512517.1:n.*2229T>G
ENST00000696286.1:c.2994T>G	ENSP00000512523.1:p.Tyr998Ter
ENST00000696287.1:c.2865T>G	ENSP00000512524.1:p.Tyr955Ter
ENST00000696291.1:c.*2499-2308T>G	ENSP00000512530.1:n.*2499-2308T>G
XM_005256294.3:c.2994T>G	XP_005256351.1:p.Tyr998Ter
XM_005256294.4:c.2994T>G	XP_005256351.1:p.Tyr998Ter
XM_011522945.1:c.2865T>G	XP_011521247.1:p.Tyr955Ter
XM_011522945.2:c.2865T>G	XP_011521247.1:p.Tyr955Ter
XM_011522946.1:c.1971T>G	XP_011521248.1:p.Tyr657Ter
XM_011522946.3:c.1971T>G	XP_011521248.1:p.Tyr657Ter
XM_011522947.1:c.1971T>G	XP_011521249.1:p.Tyr657Ter
XM_011522947.2:c.1971T>G	XP_011521249.1:p.Tyr657Ter
XM_017023044.2:c.2865T>G	XP_016878533.1:p.Tyr955Ter
XM_024450189.1:c.1971T>G	XP_024305957.1:p.Tyr657Ter
XR_001751866.1:n.3037T>G
XR_933244.1:n.3037T>G
XR_933244.2:n.3037T>G
XR_933245.1:n.3037T>G
XR_933245.2:n.3037T>G
XR_933246.1:n.3037T>G