Canonical Allele Identifier: CA397481104

Gene: FANCA

Linked Data

• MyVariant Identifiers: chr16:g.89877468G>T (hg19) ; chr16:g.89811060G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89811060G>T , CM000678.2:g.89811060G>T	GRCh38
NC_000016.9:g.89877468G>T , CM000678.1:g.89877468G>T	GRCh37
NC_000016.8:g.88404969G>T	NCBI36
NG_011706.1:g.10598C>A , LRG_495:g.10598C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561667.2:c.295C>A	ENSP00000512522.1:p.Gln99Lys
ENST00000563767.2:n.130C>A
ENST00000564475.6:c.295C>A	ENSP00000454977.2:p.Gln99Lys
ENST00000567205.2:c.295C>A	ENSP00000457027.2:p.Gln99Lys
ENST00000567284.7:n.338C>A
ENST00000567621.6:c.295C>A	ENSP00000456762.2:p.Gln99Lys
ENST00000568369.6:c.295C>A	ENSP00000456829.1:p.Gln99Lys
ENST00000696275.1:c.295C>A	ENSP00000512517.1:p.Gln99Lys
ENST00000696276.1:n.338C>A
ENST00000696277.1:c.295C>A	ENSP00000512518.1:p.Gln99Lys
ENST00000696286.1:c.295C>A	ENSP00000512523.1:p.Gln99Lys
ENST00000696287.1:c.295C>A	ENSP00000512524.1:p.Gln99Lys
ENST00000696288.1:c.326C>A	ENSP00000512525.1:n.326C>A
ENST00000696291.1:c.295C>A	ENSP00000512530.1:p.Gln99Lys
ENST00000696292.1:c.160C>A	ENSP00000512531.1:n.160C>A
ENST00000696293.1:c.152C>A	ENSP00000512532.1:n.152C>A
ENST00000696294.1:c.130C>A	ENSP00000512533.1:p.Gln44Lys
ENST00000696295.1:c.130C>A	ENSP00000512534.1:p.Gln44Lys
ENST00000696296.1:c.130C>A	ENSP00000512535.1:p.Gln44Lys
ENST00000389301.8:c.295C>A MANE Select	ENSP00000373952.3:p.Gln99Lys
ENST00000389301.7:c.295C>A	ENSP00000373952.3:p.Gln99Lys
ENST00000389302.7:c.295C>A	ENSP00000373953.3:p.Gln99Lys
ENST00000534992.5:c.295C>A	ENSP00000443675.1:p.Gln99Lys
ENST00000543736.5:c.295C>A	ENSP00000443409.1:p.Gln99Lys
ENST00000563513.1:c.284-3C>A	ENSP00000455946.1:n.284-3C>A
ENST00000563673.5:c.295C>A	ENSP00000456443.1:p.Gln99Lys
ENST00000565582.5:c.208C>A	ENSP00000456722.1:p.Gln70Lys
ENST00000566889.5:n.877C>A
ENST00000567883.5:n.288C>A
ENST00000567943.1:c.*275C>A	ENSP00000455941.1:n.*275C>A
ENST00000568369.5:c.295C>A	ENSP00000456829.1:p.Gln99Lys
NM_000135.2:c.295C>A , LRG_495t1:c.295C>A	NP_000126.2:p.Gln99Lys
NM_001018112.1:c.295C>A	NP_001018122.1:p.Gln99Lys
NM_001286167.1:c.295C>A	NP_001273096.1:p.Gln99Lys
XM_005256294.3:c.295C>A	XP_005256351.1:p.Gln99Lys
XM_011522945.1:c.295C>A	XP_011521247.1:p.Gln99Lys
XM_011522948.1:c.295C>A	XP_011521250.1:p.Gln99Lys
XR_933244.1:n.338C>A
XR_933245.1:n.338C>A
XR_933246.1:n.338C>A
XR_933247.1:n.338C>A
NM_000135.3:c.295C>A	NP_000126.2:p.Gln99Lys
NM_001018112.2:c.295C>A	NP_001018122.1:p.Gln99Lys
NM_001286167.2:c.295C>A	NP_001273096.1:p.Gln99Lys
NM_001351830.1:c.295C>A	NP_001338759.1:p.Gln99Lys
XM_005256294.4:c.295C>A	XP_005256351.1:p.Gln99Lys
XM_011522945.2:c.295C>A	XP_011521247.1:p.Gln99Lys
XM_011522946.3:c.-858C>A	XP_011521248.1:n.-858C>A
XM_011522948.2:c.295C>A	XP_011521250.1:p.Gln99Lys
XM_017023044.2:c.295C>A	XP_016878533.1:p.Gln99Lys
XM_017023045.1:c.295C>A	XP_016878534.1:p.Gln99Lys
XM_017023046.1:c.295C>A	XP_016878535.1:p.Gln99Lys
XR_001751866.1:n.338C>A
XR_001751867.1:n.338C>A
XR_001751868.2:n.338C>A
XR_002957793.1:n.338C>A
XR_933244.2:n.338C>A
XR_933245.2:n.338C>A
XR_933247.2:n.338C>A
NM_000135.4:c.295C>A MANE Select	NP_000126.2:p.Gln99Lys
NM_001018112.3:c.295C>A	NP_001018122.1:p.Gln99Lys
NM_001286167.3:c.295C>A	NP_001273096.1:p.Gln99Lys
NM_001351830.2:c.295C>A	NP_001338759.1:p.Gln99Lys