Canonical Allele Identifier: CA8251556

Gene: FANCA

Linked Data

• dbSNP Id: rs745864013
• ExAC: 16:89831251 C / G
• gnomAD v2: 16-89831251-C-G
• gnomAD v4: 16-89764843-C-G
• MyVariant Identifiers: chr16:g.89831251C>G (hg19) ; chr16:g.89764843C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89764843C>G , CM000678.2:g.89764843C>G	GRCh38
NC_000016.9:g.89831251C>G , CM000678.1:g.89831251C>G	GRCh37
NC_000016.8:g.88358752C>G	NCBI36
NG_011706.1:g.56815G>C , LRG_495:g.56815G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*1272+47G>C	ENSP00000512522.1:n.*1272+47G>C
ENST00000564475.6:c.2778+47G>C	ENSP00000454977.2:n.2778+47G>C
ENST00000567510.2:c.1477+47G>C	ENSP00000455969.1:n.1477+47G>C
ENST00000568369.6:c.2778+47G>C	ENSP00000456829.1:n.2778+47G>C
ENST00000696274.1:n.2739+47G>C
ENST00000696275.1:c.*2013+47G>C	ENSP00000512517.1:n.*2013+47G>C
ENST00000696276.1:n.2821+47G>C
ENST00000696286.1:c.2778+47G>C	ENSP00000512523.1:n.2778+47G>C
ENST00000696287.1:c.2778+47G>C	ENSP00000512524.1:n.2778+47G>C
ENST00000696291.1:c.*2498+47G>C	ENSP00000512530.1:n.*2498+47G>C
ENST00000389301.8:c.2778+47G>C MANE Select	ENSP00000373952.3:n.2778+47G>C
ENST00000305699.15:n.150+47G>C
ENST00000389301.7:c.2778+47G>C	ENSP00000373952.3:n.2778+47G>C
ENST00000561660.1:c.155+47G>C
ENST00000563318.1:c.184+47G>C
ENST00000563510.5:c.105G>C
ENST00000567988.5:c.115+47G>C
ENST00000568369.5:c.2778+47G>C	ENSP00000456829.1:n.2778+47G>C
NM_000135.2:c.2778+47G>C , LRG_495t1:c.2778+47G>C	NP_000126.2:n.2778+47G>C
NM_001286167.1:c.2778+47G>C	NP_001273096.1:n.2778+47G>C
XM_005256294.3:c.2778+47G>C	XP_005256351.1:n.2778+47G>C
XM_011522945.1:c.2778+47G>C	XP_011521247.1:n.2778+47G>C
XM_011522946.1:c.1755+47G>C	XP_011521248.1:n.1755+47G>C
XM_011522947.1:c.1755+47G>C	XP_011521249.1:n.1755+47G>C
XR_933244.1:n.2821+47G>C
XR_933245.1:n.2821+47G>C
XR_933246.1:n.2821+47G>C
NM_000135.3:c.2778+47G>C	NP_000126.2:n.2778+47G>C
NM_001286167.2:c.2778+47G>C	NP_001273096.1:n.2778+47G>C
XM_005256294.4:c.2778+47G>C	XP_005256351.1:n.2778+47G>C
XM_011522945.2:c.2778+47G>C	XP_011521247.1:n.2778+47G>C
XM_011522946.3:c.1755+47G>C	XP_011521248.1:n.1755+47G>C
XM_011522947.2:c.1755+47G>C	XP_011521249.1:n.1755+47G>C
XM_017023044.2:c.2778+47G>C	XP_016878533.1:n.2778+47G>C
XM_017023045.1:c.2778+47G>C	XP_016878534.1:n.2778+47G>C
XM_024450189.1:c.1755+47G>C	XP_024305957.1:n.1755+47G>C
XR_001751866.1:n.2821+47G>C
XR_933244.2:n.2821+47G>C
XR_933245.2:n.2821+47G>C
XR_933247.2:n.2950+47G>C
NM_000135.4:c.2778+47G>C MANE Select	NP_000126.2:n.2778+47G>C
NM_001286167.3:c.2778+47G>C	NP_001273096.1:n.2778+47G>C