Canonical Allele Identifier: CA397486730

Gene: FANCA

Linked Data

• ClinVar Variation Id: 456108
• ClinVar RCV Id: RCV000543183
• dbSNP Id: rs1555538740
• MyVariant Identifiers: chr16:g.89816292C>A (hg19) ; chr16:g.89749884C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89749884C>A , CM000678.2:g.89749884C>A	GRCh38
NC_000016.9:g.89816292C>A , CM000678.1:g.89816292C>A	GRCh37
NC_000016.8:g.88343793C>A	NCBI36
NG_011706.1:g.71774G>T , LRG_495:g.71774G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*1563G>T	ENSP00000512522.1:n.*1563G>T
ENST00000564475.6:c.3085G>T	ENSP00000454977.2:p.Glu1029Ter
ENST00000567510.2:c.1655G>T	ENSP00000455969.1:n.1655G>T
ENST00000568369.6:c.3085G>T	ENSP00000456829.1:p.Glu1029Ter
ENST00000568983.6:n.104G>T
ENST00000696274.1:n.3046G>T
ENST00000696275.1:c.*2320G>T	ENSP00000512517.1:n.*2320G>T
ENST00000696286.1:c.3085G>T	ENSP00000512523.1:p.Glu1029Ter
ENST00000696287.1:c.2956G>T	ENSP00000512524.1:p.Glu986Ter
ENST00000696291.1:c.*2517G>T	ENSP00000512530.1:n.*2517G>T
ENST00000389301.8:c.3085G>T MANE Select	ENSP00000373952.3:p.Glu1029Ter
ENST00000305699.15:n.328G>T
ENST00000389301.7:c.3085G>T	ENSP00000373952.3:p.Glu1029Ter
ENST00000561660.1:c.444-1117G>T
ENST00000563510.5:c.475G>T
ENST00000567988.5:c.337G>T
ENST00000568369.5:c.3085G>T	ENSP00000456829.1:p.Glu1029Ter
NM_000135.2:c.3085G>T , LRG_495t1:c.3085G>T	NP_000126.2:p.Glu1029Ter
NM_001286167.1:c.3085G>T	NP_001273096.1:p.Glu1029Ter
XM_005256294.3:c.3085G>T	XP_005256351.1:p.Glu1029Ter
XM_011522945.1:c.2956G>T	XP_011521247.1:p.Glu986Ter
XM_011522946.1:c.2062G>T	XP_011521248.1:p.Glu688Ter
XM_011522947.1:c.2062G>T	XP_011521249.1:p.Glu688Ter
XR_933244.1:n.3128G>T
XR_933245.1:n.3128G>T
XR_933246.1:n.3110-1117G>T
NM_000135.3:c.3085G>T	NP_000126.2:p.Glu1029Ter
NM_001286167.2:c.3085G>T	NP_001273096.1:p.Glu1029Ter
XM_005256294.4:c.3085G>T	XP_005256351.1:p.Glu1029Ter
XM_011522945.2:c.2956G>T	XP_011521247.1:p.Glu986Ter
XM_011522946.3:c.2062G>T	XP_011521248.1:p.Glu688Ter
XM_011522947.2:c.2062G>T	XP_011521249.1:p.Glu688Ter
XM_017023044.2:c.2956G>T	XP_016878533.1:p.Glu986Ter
XM_024450189.1:c.2062G>T	XP_024305957.1:p.Glu688Ter
XR_001751866.1:n.3110-1117G>T
XR_933244.2:n.3128G>T
XR_933245.2:n.3128G>T
NM_000135.4:c.3085G>T MANE Select	NP_000126.2:p.Glu1029Ter
NM_001286167.3:c.3085G>T	NP_001273096.1:p.Glu1029Ter