Canonical Allele Identifier: CA16615049

Gene: FANCA

Linked Data

• ClinVar Variation Id: 408183
• ClinVar RCV Id: RCV000464366 ; RCV001256354
• dbSNP Id: rs1060501879
• gnomAD v4: 16-89791458-C-T
• MyVariant Identifiers: chr16:g.89857866C>T (hg19) ; chr16:g.89791458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89791458C>T , CM000678.2:g.89791458C>T	GRCh38
NC_000016.9:g.89857866C>T , CM000678.1:g.89857866C>T	GRCh37
NC_000016.8:g.88385367C>T	NCBI36
NG_011706.1:g.30200G>A , LRG_495:g.30200G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.1304G>A	ENSP00000512522.1:p.Arg435His
ENST00000563767.2:n.1199G>A
ENST00000564475.6:c.1304G>A	ENSP00000454977.2:p.Arg435His
ENST00000567205.2:c.1304G>A	ENSP00000457027.2:p.Arg435His
ENST00000567284.7:n.1347G>A
ENST00000568369.6:c.1304G>A	ENSP00000456829.1:p.Arg435His
ENST00000696274.1:n.1265G>A
ENST00000696275.1:c.*539G>A	ENSP00000512517.1:n.*539G>A
ENST00000696276.1:n.1347G>A
ENST00000696277.1:c.1304G>A	ENSP00000512518.1:p.Arg435His
ENST00000696286.1:c.1304G>A	ENSP00000512523.1:p.Arg435His
ENST00000696287.1:c.1304G>A	ENSP00000512524.1:p.Arg435His
ENST00000696291.1:c.*648G>A	ENSP00000512530.1:n.*648G>A
ENST00000696292.1:c.1384G>A	ENSP00000512531.1:n.1384G>A
ENST00000389301.8:c.1304G>A MANE Select	ENSP00000373952.3:p.Arg435His
ENST00000389301.7:c.1304G>A	ENSP00000373952.3:p.Arg435His
ENST00000563767.1:n.164G>A
ENST00000568369.5:c.1304G>A	ENSP00000456829.1:p.Arg435His
NM_000135.2:c.1304G>A , LRG_495t1:c.1304G>A	NP_000126.2:p.Arg435His
NM_001286167.1:c.1304G>A	NP_001273096.1:p.Arg435His
XM_005256294.3:c.1304G>A	XP_005256351.1:p.Arg435His
XM_011522945.1:c.1304G>A	XP_011521247.1:p.Arg435His
XM_011522946.1:c.281G>A	XP_011521248.1:p.Arg94His
XM_011522947.1:c.281G>A	XP_011521249.1:p.Arg94His
XM_011522948.1:c.1304G>A	XP_011521250.1:p.Arg435His
XR_933244.1:n.1347G>A
XR_933245.1:n.1347G>A
XR_933246.1:n.1347G>A
XR_933247.1:n.1347G>A
NM_000135.3:c.1304G>A	NP_000126.2:p.Arg435His
NM_001286167.2:c.1304G>A	NP_001273096.1:p.Arg435His
XM_005256294.4:c.1304G>A	XP_005256351.1:p.Arg435His
XM_011522945.2:c.1304G>A	XP_011521247.1:p.Arg435His
XM_011522946.3:c.281G>A	XP_011521248.1:p.Arg94His
XM_011522947.2:c.281G>A	XP_011521249.1:p.Arg94His
XM_011522948.2:c.1304G>A	XP_011521250.1:p.Arg435His
XM_017023044.2:c.1304G>A	XP_016878533.1:p.Arg435His
XM_017023045.1:c.1304G>A	XP_016878534.1:p.Arg435His
XM_017023046.1:c.1225+469G>A	XP_016878535.1:n.1225+469G>A
XM_024450189.1:c.281G>A	XP_024305957.1:p.Arg94His
XR_001751866.1:n.1347G>A
XR_001751867.1:n.1347G>A
XR_001751868.2:n.1234G>A
XR_002957793.1:n.1476G>A
XR_933244.2:n.1347G>A
XR_933245.2:n.1347G>A
XR_933247.2:n.1347G>A
NM_000135.4:c.1304G>A MANE Select	NP_000126.2:p.Arg435His
NM_001286167.3:c.1304G>A	NP_001273096.1:p.Arg435His