Canonical Allele Identifier: CA397486172

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89748657A>C , CM000678.2:g.89748657A>C	GRCh38
NC_000016.9:g.89815065A>C , CM000678.1:g.89815065A>C	GRCh37
NC_000016.8:g.88342566A>C	NCBI36
NG_011706.1:g.73001T>G , LRG_495:g.73001T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.3348+2T>G MANE Select	NP_000126.2:n.3348+2T>G
ENST00000389301.8:c.3348+2T>G MANE Select	ENSP00000373952.3:n.3348+2T>G
NM_000135.2:c.3348+2T>G , LRG_495t1:c.3348+2T>G	NP_000126.2:n.3348+2T>G
NM_000135.3:c.3348+2T>G	NP_000126.2:n.3348+2T>G
NM_001286167.1:c.3348+2T>G	NP_001273096.1:n.3348+2T>G
NM_001286167.2:c.3348+2T>G	NP_001273096.1:n.3348+2T>G
NM_001286167.3:c.3348+2T>G	NP_001273096.1:n.3348+2T>G
ENST00000305699.15:n.591+2T>G
ENST00000389301.7:c.3348+2T>G	ENSP00000373952.3:n.3348+2T>G
ENST00000561660.1:c.552+2T>G
ENST00000561667.2:c.*1826+2T>G	ENSP00000512522.1:n.*1826+2T>G
ENST00000564475.6:c.3348+2T>G	ENSP00000454977.2:n.3348+2T>G
ENST00000567510.2:c.1918+2T>G	ENSP00000455969.1:n.1918+2T>G
ENST00000567988.5:c.600+2T>G
ENST00000568369.5:c.3348+2T>G	ENSP00000456829.1:n.3348+2T>G
ENST00000568369.6:c.3348+2T>G	ENSP00000456829.1:n.3348+2T>G
ENST00000568626.1:c.196+2T>G
ENST00000568983.5:n.176+2T>G
ENST00000568983.6:n.367+2T>G
ENST00000696274.1:n.3309+2T>G
ENST00000696275.1:c.*2583+2T>G	ENSP00000512517.1:n.*2583+2T>G
ENST00000696286.1:c.3348+2T>G	ENSP00000512523.1:n.3348+2T>G
ENST00000696287.1:c.3219+2T>G	ENSP00000512524.1:n.3219+2T>G
ENST00000696291.1:c.*2780+2T>G	ENSP00000512530.1:n.*2780+2T>G
XM_005256294.3:c.3348+2T>G	XP_005256351.1:n.3348+2T>G
XM_005256294.4:c.3348+2T>G	XP_005256351.1:n.3348+2T>G
XM_011522945.1:c.3219+2T>G	XP_011521247.1:n.3219+2T>G
XM_011522945.2:c.3219+2T>G	XP_011521247.1:n.3219+2T>G
XM_011522946.1:c.2325+2T>G	XP_011521248.1:n.2325+2T>G
XM_011522946.3:c.2325+2T>G	XP_011521248.1:n.2325+2T>G
XM_011522947.1:c.2325+2T>G	XP_011521249.1:n.2325+2T>G
XM_011522947.2:c.2325+2T>G	XP_011521249.1:n.2325+2T>G
XM_017023044.2:c.3219+2T>G	XP_016878533.1:n.3219+2T>G
XM_024450189.1:c.2325+2T>G	XP_024305957.1:n.2325+2T>G
XR_001751866.1:n.3218+2T>G
XR_933244.1:n.3391+2T>G
XR_933244.2:n.3391+2T>G
XR_933245.1:n.3391+2T>G
XR_933245.2:n.3391+2T>G
XR_933246.1:n.3218+2T>G