Canonical Allele Identifier: CA397431195

Gene: FANCA

Linked Data

• dbSNP Id: rs2038841634
• gnomAD v3: 16-89758625-T-C
• gnomAD v4: 16-89758625-T-C
• MyVariant Identifiers: chr16:g.89825033T>C (hg19) ; chr16:g.89758625T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89758625T>C , CM000678.2:g.89758625T>C	GRCh38
NC_000016.9:g.89825033T>C , CM000678.1:g.89825033T>C	GRCh37
NC_000016.8:g.88352534T>C	NCBI36
NG_011706.1:g.63033A>G , LRG_495:g.63033A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561667.2:c.*1459+3324A>G	ENSP00000512522.1:n.*1459+3324A>G
ENST00000564475.6:c.2933A>G	ENSP00000454977.2:p.Gln978Arg
ENST00000567510.2:c.1551+3324A>G	ENSP00000455969.1:n.1551+3324A>G
ENST00000568369.6:c.2933A>G	ENSP00000456829.1:p.Gln978Arg
ENST00000696274.1:n.2894A>G
ENST00000696275.1:c.*2168A>G	ENSP00000512517.1:n.*2168A>G
ENST00000696286.1:c.2933A>G	ENSP00000512523.1:p.Gln978Arg
ENST00000696287.1:c.2852+3324A>G	ENSP00000512524.1:n.2852+3324A>G
ENST00000696291.1:c.*2498+6265A>G	ENSP00000512530.1:n.*2498+6265A>G
ENST00000389301.8:c.2933A>G MANE Select	ENSP00000373952.3:p.Gln978Arg
ENST00000305699.15:n.224+3324A>G
ENST00000389301.7:c.2933A>G	ENSP00000373952.3:p.Gln978Arg
ENST00000561660.1:c.310A>G
ENST00000563318.1:c.495A>G
ENST00000563510.5:c.371+3324A>G
ENST00000567988.5:c.270A>G
ENST00000568369.5:c.2933A>G	ENSP00000456829.1:p.Gln978Arg
NM_000135.2:c.2933A>G , LRG_495t1:c.2933A>G	NP_000126.2:p.Gln978Arg
NM_001286167.1:c.2933A>G	NP_001273096.1:p.Gln978Arg
XM_005256294.3:c.2933A>G	XP_005256351.1:p.Gln978Arg
XM_011522945.1:c.2852+3324A>G	XP_011521247.1:n.2852+3324A>G
XM_011522946.1:c.1910A>G	XP_011521248.1:p.Gln637Arg
XM_011522947.1:c.1910A>G	XP_011521249.1:p.Gln637Arg
XR_933244.1:n.2976A>G
XR_933245.1:n.2976A>G
XR_933246.1:n.2976A>G
NM_000135.3:c.2933A>G	NP_000126.2:p.Gln978Arg
NM_001286167.2:c.2933A>G	NP_001273096.1:p.Gln978Arg
XM_005256294.4:c.2933A>G	XP_005256351.1:p.Gln978Arg
XM_011522945.2:c.2852+3324A>G	XP_011521247.1:n.2852+3324A>G
XM_011522946.3:c.1910A>G	XP_011521248.1:p.Gln637Arg
XM_011522947.2:c.1910A>G	XP_011521249.1:p.Gln637Arg
XM_017023044.2:c.2852+3324A>G	XP_016878533.1:n.2852+3324A>G
XM_024450189.1:c.1910A>G	XP_024305957.1:p.Gln637Arg
XR_001751866.1:n.2976A>G
XR_933244.2:n.2976A>G
XR_933245.2:n.2976A>G
NM_000135.4:c.2933A>G MANE Select	NP_000126.2:p.Gln978Arg
NM_001286167.3:c.2933A>G	NP_001273096.1:p.Gln978Arg