Canonical Allele Identifier: CA397431598

Gene: FANCA

Linked Data

• MyVariant Identifiers: chr16:g.89825110C>A (hg19) ; chr16:g.89758702C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89758702C>A , CM000678.2:g.89758702C>A	GRCh38
NC_000016.9:g.89825110C>A , CM000678.1:g.89825110C>A	GRCh37
NC_000016.8:g.88352611C>A	NCBI36
NG_011706.1:g.62956G>T , LRG_495:g.62956G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*1459+3247G>T	ENSP00000512522.1:n.*1459+3247G>T
ENST00000564475.6:c.2856G>T	ENSP00000454977.2:p.Gln952His
ENST00000567510.2:c.1551+3247G>T	ENSP00000455969.1:n.1551+3247G>T
ENST00000568369.6:c.2856G>T	ENSP00000456829.1:p.Gln952His
ENST00000696274.1:n.2817G>T
ENST00000696275.1:c.*2091G>T	ENSP00000512517.1:n.*2091G>T
ENST00000696286.1:c.2856G>T	ENSP00000512523.1:p.Gln952His
ENST00000696287.1:c.2852+3247G>T	ENSP00000512524.1:n.2852+3247G>T
ENST00000696291.1:c.*2498+6188G>T	ENSP00000512530.1:n.*2498+6188G>T
ENST00000389301.8:c.2856G>T MANE Select	ENSP00000373952.3:p.Gln952His
ENST00000305699.15:n.224+3247G>T
ENST00000389301.7:c.2856G>T	ENSP00000373952.3:p.Gln952His
ENST00000561660.1:c.233G>T
ENST00000563318.1:c.418G>T
ENST00000563510.5:c.371+3247G>T
ENST00000567988.5:c.193G>T
ENST00000568369.5:c.2856G>T	ENSP00000456829.1:p.Gln952His
NM_000135.2:c.2856G>T , LRG_495t1:c.2856G>T	NP_000126.2:p.Gln952His
NM_001286167.1:c.2856G>T	NP_001273096.1:p.Gln952His
XM_005256294.3:c.2856G>T	XP_005256351.1:p.Gln952His
XM_011522945.1:c.2852+3247G>T	XP_011521247.1:n.2852+3247G>T
XM_011522946.1:c.1833G>T	XP_011521248.1:p.Gln611His
XM_011522947.1:c.1833G>T	XP_011521249.1:p.Gln611His
XR_933244.1:n.2899G>T
XR_933245.1:n.2899G>T
XR_933246.1:n.2899G>T
NM_000135.3:c.2856G>T	NP_000126.2:p.Gln952His
NM_001286167.2:c.2856G>T	NP_001273096.1:p.Gln952His
XM_005256294.4:c.2856G>T	XP_005256351.1:p.Gln952His
XM_011522945.2:c.2852+3247G>T	XP_011521247.1:n.2852+3247G>T
XM_011522946.3:c.1833G>T	XP_011521248.1:p.Gln611His
XM_011522947.2:c.1833G>T	XP_011521249.1:p.Gln611His
XM_017023044.2:c.2852+3247G>T	XP_016878533.1:n.2852+3247G>T
XM_024450189.1:c.1833G>T	XP_024305957.1:p.Gln611His
XR_001751866.1:n.2899G>T
XR_933244.2:n.2899G>T
XR_933245.2:n.2899G>T
NM_000135.4:c.2856G>T MANE Select	NP_000126.2:p.Gln952His
NM_001286167.3:c.2856G>T	NP_001273096.1:p.Gln952His