Canonical Allele Identifier: CA8251380

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89752196T>C , CM000678.2:g.89752196T>C	GRCh38
NC_000016.9:g.89818604T>C , CM000678.1:g.89818604T>C	GRCh37
NC_000016.8:g.88346105T>C	NCBI36
NG_011706.1:g.69462A>G , LRG_495:g.69462A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.3008A>G MANE Select	NP_000126.2:p.Asn1003Ser
ENST00000389301.8:c.3008A>G MANE Select	ENSP00000373952.3:p.Asn1003Ser
NM_000135.2:c.3008A>G , LRG_495t1:c.3008A>G	NP_000126.2:p.Asn1003Ser
NM_000135.3:c.3008A>G	NP_000126.2:p.Asn1003Ser
NM_001286167.1:c.3008A>G	NP_001273096.1:p.Asn1003Ser
NM_001286167.2:c.3008A>G	NP_001273096.1:p.Asn1003Ser
NM_001286167.3:c.3008A>G	NP_001273096.1:p.Asn1003Ser
ENST00000305699.15:n.251A>G
ENST00000389301.7:c.3008A>G	ENSP00000373952.3:p.Asn1003Ser
ENST00000561660.1:c.385A>G
ENST00000561667.2:c.*1486A>G	ENSP00000512522.1:n.*1486A>G
ENST00000563318.1:c.570A>G
ENST00000563510.5:c.398A>G
ENST00000564475.6:c.3008A>G	ENSP00000454977.2:p.Asn1003Ser
ENST00000567510.2:c.1578A>G	ENSP00000455969.1:n.1578A>G
ENST00000567988.5:c.319-2294A>G
ENST00000568369.5:c.3008A>G	ENSP00000456829.1:p.Asn1003Ser
ENST00000568369.6:c.3008A>G	ENSP00000456829.1:p.Asn1003Ser
ENST00000568983.6:n.27A>G
ENST00000696274.1:n.2969A>G
ENST00000696275.1:c.*2243A>G	ENSP00000512517.1:n.*2243A>G
ENST00000696286.1:c.3008A>G	ENSP00000512523.1:p.Asn1003Ser
ENST00000696287.1:c.2879A>G	ENSP00000512524.1:p.Asn960Ser
ENST00000696291.1:c.*2499-2294A>G	ENSP00000512530.1:n.*2499-2294A>G
XM_005256294.3:c.3008A>G	XP_005256351.1:p.Asn1003Ser
XM_005256294.4:c.3008A>G	XP_005256351.1:p.Asn1003Ser
XM_011522945.1:c.2879A>G	XP_011521247.1:p.Asn960Ser
XM_011522945.2:c.2879A>G	XP_011521247.1:p.Asn960Ser
XM_011522946.1:c.1985A>G	XP_011521248.1:p.Asn662Ser
XM_011522946.3:c.1985A>G	XP_011521248.1:p.Asn662Ser
XM_011522947.1:c.1985A>G	XP_011521249.1:p.Asn662Ser
XM_011522947.2:c.1985A>G	XP_011521249.1:p.Asn662Ser
XM_017023044.2:c.2879A>G	XP_016878533.1:p.Asn960Ser
XM_024450189.1:c.1985A>G	XP_024305957.1:p.Asn662Ser
XR_001751866.1:n.3051A>G
XR_933244.1:n.3051A>G
XR_933244.2:n.3051A>G
XR_933245.1:n.3051A>G
XR_933245.2:n.3051A>G
XR_933246.1:n.3051A>G