Canonical Allele Identifier: CA397486762

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89749899T>C , CM000678.2:g.89749899T>C	GRCh38
NC_000016.9:g.89816307T>C , CM000678.1:g.89816307T>C	GRCh37
NC_000016.8:g.88343808T>C	NCBI36
NG_011706.1:g.71759A>G , LRG_495:g.71759A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.3070A>G MANE Select	NP_000126.2:p.Met1024Val
ENST00000389301.8:c.3070A>G MANE Select	ENSP00000373952.3:p.Met1024Val
NM_000135.2:c.3070A>G , LRG_495t1:c.3070A>G	NP_000126.2:p.Met1024Val
NM_000135.3:c.3070A>G	NP_000126.2:p.Met1024Val
NM_001286167.1:c.3070A>G	NP_001273096.1:p.Met1024Val
NM_001286167.2:c.3070A>G	NP_001273096.1:p.Met1024Val
NM_001286167.3:c.3070A>G	NP_001273096.1:p.Met1024Val
ENST00000305699.15:n.313A>G
ENST00000389301.7:c.3070A>G	ENSP00000373952.3:p.Met1024Val
ENST00000561660.1:c.444-1132A>G
ENST00000561667.2:c.*1548A>G	ENSP00000512522.1:n.*1548A>G
ENST00000563510.5:c.460A>G
ENST00000564475.6:c.3070A>G	ENSP00000454977.2:p.Met1024Val
ENST00000567510.2:c.1640A>G	ENSP00000455969.1:n.1640A>G
ENST00000567988.5:c.322A>G
ENST00000568369.5:c.3070A>G	ENSP00000456829.1:p.Met1024Val
ENST00000568369.6:c.3070A>G	ENSP00000456829.1:p.Met1024Val
ENST00000568983.6:n.89A>G
ENST00000696274.1:n.3031A>G
ENST00000696275.1:c.*2305A>G	ENSP00000512517.1:n.*2305A>G
ENST00000696286.1:c.3070A>G	ENSP00000512523.1:p.Met1024Val
ENST00000696287.1:c.2941A>G	ENSP00000512524.1:p.Met981Val
ENST00000696291.1:c.*2502A>G	ENSP00000512530.1:n.*2502A>G
XM_005256294.3:c.3070A>G	XP_005256351.1:p.Met1024Val
XM_005256294.4:c.3070A>G	XP_005256351.1:p.Met1024Val
XM_011522945.1:c.2941A>G	XP_011521247.1:p.Met981Val
XM_011522945.2:c.2941A>G	XP_011521247.1:p.Met981Val
XM_011522946.1:c.2047A>G	XP_011521248.1:p.Met683Val
XM_011522946.3:c.2047A>G	XP_011521248.1:p.Met683Val
XM_011522947.1:c.2047A>G	XP_011521249.1:p.Met683Val
XM_011522947.2:c.2047A>G	XP_011521249.1:p.Met683Val
XM_017023044.2:c.2941A>G	XP_016878533.1:p.Met981Val
XM_024450189.1:c.2047A>G	XP_024305957.1:p.Met683Val
XR_001751866.1:n.3110-1132A>G
XR_933244.1:n.3113A>G
XR_933244.2:n.3113A>G
XR_933245.1:n.3113A>G
XR_933245.2:n.3113A>G
XR_933246.1:n.3110-1132A>G