Canonical Allele Identifier: CA16620313

Gene: FANCA

Linked Data

• ClinVar Variation Id: 423994
• ClinVar RCV Id: RCV000484076 ; RCV001223396
• dbSNP Id: rs753211631
• gnomAD v2: 16-89871687-C-G
• gnomAD v4: 16-89805279-C-G
• MyVariant Identifiers: chr16:g.89871687C>G (hg19) ; chr16:g.89805279C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89805279C>G , CM000678.2:g.89805279C>G	GRCh38
NC_000016.9:g.89871687C>G , CM000678.1:g.89871687C>G	GRCh37
NC_000016.8:g.88399188C>G	NCBI36
NG_011706.1:g.16379G>C , LRG_495:g.16379G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.709+1G>C	ENSP00000512522.1:n.709+1G>C
ENST00000563767.2:n.544+1G>C
ENST00000564475.6:c.709+1G>C	ENSP00000454977.2:n.709+1G>C
ENST00000567205.2:c.709+1G>C	ENSP00000457027.2:n.709+1G>C
ENST00000567284.7:n.752+1G>C
ENST00000567621.6:c.709+1G>C	ENSP00000456762.2:n.709+1G>C
ENST00000568369.6:c.709+1G>C	ENSP00000456829.1:n.709+1G>C
ENST00000696274.1:n.783+1G>C
ENST00000696275.1:c.709+1G>C	ENSP00000512517.1:n.709+1G>C
ENST00000696276.1:n.752+1G>C
ENST00000696277.1:c.709+1G>C	ENSP00000512518.1:n.709+1G>C
ENST00000696286.1:c.709+1G>C	ENSP00000512523.1:n.709+1G>C
ENST00000696287.1:c.709+1G>C	ENSP00000512524.1:n.709+1G>C
ENST00000696288.1:c.740+1G>C	ENSP00000512525.1:n.740+1G>C
ENST00000696291.1:c.*53+1G>C	ENSP00000512530.1:n.*53+1G>C
ENST00000696292.1:c.574+1G>C	ENSP00000512531.1:n.574+1G>C
ENST00000696293.1:c.566+1G>C	ENSP00000512532.1:n.566+1G>C
ENST00000696294.1:c.544+1G>C	ENSP00000512533.1:n.544+1G>C
ENST00000696295.1:c.544+1G>C	ENSP00000512534.1:n.544+1G>C
ENST00000696296.1:c.545G>C	ENSP00000512535.1:p.Gly182Ala
ENST00000389301.8:c.709+1G>C MANE Select	ENSP00000373952.3:n.709+1G>C
ENST00000389301.7:c.709+1G>C	ENSP00000373952.3:n.709+1G>C
ENST00000389302.7:c.709+1G>C	ENSP00000373953.3:n.709+1G>C
ENST00000534992.5:c.709+1G>C	ENSP00000443675.1:n.709+1G>C
ENST00000543736.5:c.613+1G>C	ENSP00000443409.1:n.613+1G>C
ENST00000563673.5:c.709+1G>C	ENSP00000456443.1:n.709+1G>C
ENST00000565582.5:c.622+1G>C	ENSP00000456722.1:n.622+1G>C
ENST00000566889.5:n.1291+1G>C
ENST00000567621.5:c.186+1G>C
ENST00000568369.5:c.709+1G>C	ENSP00000456829.1:n.709+1G>C
NM_000135.2:c.709+1G>C , LRG_495t1:c.709+1G>C	NP_000126.2:n.709+1G>C
NM_001018112.1:c.709+1G>C	NP_001018122.1:n.709+1G>C
NM_001286167.1:c.709+1G>C	NP_001273096.1:n.709+1G>C
XM_005256294.3:c.709+1G>C	XP_005256351.1:n.709+1G>C
XM_011522945.1:c.709+1G>C	XP_011521247.1:n.709+1G>C
XM_011522946.1:c.-444+1G>C	XP_011521248.1:n.-444+1G>C
XM_011522947.1:c.-202+1G>C	XP_011521249.1:n.-202+1G>C
XM_011522948.1:c.709+1G>C	XP_011521250.1:n.709+1G>C
XR_933244.1:n.752+1G>C
XR_933245.1:n.752+1G>C
XR_933246.1:n.752+1G>C
XR_933247.1:n.752+1G>C
NM_000135.3:c.709+1G>C	NP_000126.2:n.709+1G>C
NM_001018112.2:c.709+1G>C	NP_001018122.1:n.709+1G>C
NM_001286167.2:c.709+1G>C	NP_001273096.1:n.709+1G>C
NM_001351830.1:c.613+1G>C	NP_001338759.1:n.613+1G>C
XM_005256294.4:c.709+1G>C	XP_005256351.1:n.709+1G>C
XM_011522945.2:c.709+1G>C	XP_011521247.1:n.709+1G>C
XM_011522946.3:c.-444+1G>C	XP_011521248.1:n.-444+1G>C
XM_011522947.2:c.-202+1G>C	XP_011521249.1:n.-202+1G>C
XM_011522948.2:c.709+1G>C	XP_011521250.1:n.709+1G>C
XM_017023044.2:c.709+1G>C	XP_016878533.1:n.709+1G>C
XM_017023045.1:c.709+1G>C	XP_016878534.1:n.709+1G>C
XM_017023046.1:c.709+1G>C	XP_016878535.1:n.709+1G>C
XM_024450189.1:c.-444+1G>C	XP_024305957.1:n.-444+1G>C
XR_001751866.1:n.752+1G>C
XR_001751867.1:n.752+1G>C
XR_001751868.2:n.752+1G>C
XR_002957793.1:n.752+1G>C
XR_933244.2:n.752+1G>C
XR_933245.2:n.752+1G>C
XR_933247.2:n.752+1G>C
NM_000135.4:c.709+1G>C MANE Select	NP_000126.2:n.709+1G>C
NM_001018112.3:c.709+1G>C	NP_001018122.1:n.709+1G>C
NM_001286167.3:c.709+1G>C	NP_001273096.1:n.709+1G>C
NM_001351830.2:c.613+1G>C	NP_001338759.1:n.613+1G>C