Canonical Allele Identifier: CA397433151

Gene: FANCA

Linked Data

• ClinVar Variation Id: 983707
• ClinVar RCV Id: RCV001263710
• dbSNP Id: rs2038967261
• MyVariant Identifiers: chr16:g.89828361C>A (hg19) ; chr16:g.89761953C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89761953C>A , CM000678.2:g.89761953C>A	GRCh38
NC_000016.9:g.89828361C>A , CM000678.1:g.89828361C>A	GRCh37
NC_000016.8:g.88355862C>A	NCBI36
NG_011706.1:g.59705G>T , LRG_495:g.59705G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561667.2:c.*1455G>T	ENSP00000512522.1:n.*1455G>T
ENST00000564475.6:c.2848G>T	ENSP00000454977.2:p.Glu950Ter
ENST00000567510.2:c.1547G>T	ENSP00000455969.1:n.1547G>T
ENST00000568369.6:c.2848G>T	ENSP00000456829.1:p.Glu950Ter
ENST00000696274.1:n.2809G>T
ENST00000696275.1:c.*2083G>T	ENSP00000512517.1:n.*2083G>T
ENST00000696276.1:n.2891G>T
ENST00000696286.1:c.2848G>T	ENSP00000512523.1:p.Glu950Ter
ENST00000696287.1:c.2848G>T	ENSP00000512524.1:p.Glu950Ter
ENST00000696291.1:c.*2498+2937G>T	ENSP00000512530.1:n.*2498+2937G>T
ENST00000389301.8:c.2848G>T MANE Select	ENSP00000373952.3:p.Glu950Ter
ENST00000305699.15:n.220G>T
ENST00000389301.7:c.2848G>T	ENSP00000373952.3:p.Glu950Ter
ENST00000561660.1:c.225G>T
ENST00000563318.1:c.410G>T
ENST00000563510.5:c.367G>T
ENST00000567988.5:c.185G>T
ENST00000568369.5:c.2848G>T	ENSP00000456829.1:p.Glu950Ter
NM_000135.2:c.2848G>T , LRG_495t1:c.2848G>T	NP_000126.2:p.Glu950Ter
NM_001286167.1:c.2848G>T	NP_001273096.1:p.Glu950Ter
XM_005256294.3:c.2848G>T	XP_005256351.1:p.Glu950Ter
XM_011522945.1:c.2848G>T	XP_011521247.1:p.Glu950Ter
XM_011522946.1:c.1825G>T	XP_011521248.1:p.Glu609Ter
XM_011522947.1:c.1825G>T	XP_011521249.1:p.Glu609Ter
XR_933244.1:n.2891G>T
XR_933245.1:n.2891G>T
XR_933246.1:n.2891G>T
NM_000135.3:c.2848G>T	NP_000126.2:p.Glu950Ter
NM_001286167.2:c.2848G>T	NP_001273096.1:p.Glu950Ter
XM_005256294.4:c.2848G>T	XP_005256351.1:p.Glu950Ter
XM_011522945.2:c.2848G>T	XP_011521247.1:p.Glu950Ter
XM_011522946.3:c.1825G>T	XP_011521248.1:p.Glu609Ter
XM_011522947.2:c.1825G>T	XP_011521249.1:p.Glu609Ter
XM_017023044.2:c.2848G>T	XP_016878533.1:p.Glu950Ter
XM_017023045.1:c.2848G>T	XP_016878534.1:p.Glu950Ter
XM_024450189.1:c.1825G>T	XP_024305957.1:p.Glu609Ter
XR_001751866.1:n.2891G>T
XR_933244.2:n.2891G>T
XR_933245.2:n.2891G>T
NM_000135.4:c.2848G>T MANE Select	NP_000126.2:p.Glu950Ter
NM_001286167.3:c.2848G>T	NP_001273096.1:p.Glu950Ter