Canonical Allele Identifier: CA8252196

Gene: FANCA

Linked Data

• ClinVar Variation Id: 255238
• ClinVar RCV Id: RCV000247510 ; RCV001537716 ; RCV001689775
• dbSNP Id: rs17226337
• ExAC: 16:89846397 A / G
• gnomAD v2: 16-89846397-A-G
• gnomAD v3: 16-89779989-A-G
• gnomAD v4: 16-89779989-A-G
• MyVariant Identifiers: chr16:g.89846397A>G (hg19) ; chr16:g.89779989A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89779989A>G , CM000678.2:g.89779989A>G	GRCh38
NC_000016.9:g.89846397A>G , CM000678.1:g.89846397A>G	GRCh37
NC_000016.8:g.88373898A>G	NCBI36
NG_011706.1:g.41669T>C , LRG_495:g.41669T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.1627-32T>C	ENSP00000512522.1:n.1627-32T>C
ENST00000564475.6:c.1627-32T>C	ENSP00000454977.2:n.1627-32T>C
ENST00000567205.2:c.1627-32T>C	ENSP00000457027.2:n.1627-32T>C
ENST00000567284.7:n.1670-32T>C
ENST00000568369.6:c.1627-32T>C	ENSP00000456829.1:n.1627-32T>C
ENST00000696274.1:n.1588-32T>C
ENST00000696275.1:c.*862-32T>C	ENSP00000512517.1:n.*862-32T>C
ENST00000696276.1:n.1670-32T>C
ENST00000696286.1:c.1627-32T>C	ENSP00000512523.1:n.1627-32T>C
ENST00000696287.1:c.1627-32T>C	ENSP00000512524.1:n.1627-32T>C
ENST00000696291.1:c.*971-32T>C	ENSP00000512530.1:n.*971-32T>C
ENST00000389301.8:c.1627-32T>C MANE Select	ENSP00000373952.3:n.1627-32T>C
ENST00000389301.7:c.1627-32T>C	ENSP00000373952.3:n.1627-32T>C
ENST00000568369.5:c.1627-32T>C	ENSP00000456829.1:n.1627-32T>C
NM_000135.2:c.1627-32T>C , LRG_495t1:c.1627-32T>C	NP_000126.2:n.1627-32T>C
NM_001286167.1:c.1627-32T>C	NP_001273096.1:n.1627-32T>C
XM_005256294.3:c.1627-32T>C	XP_005256351.1:n.1627-32T>C
XM_011522945.1:c.1627-32T>C	XP_011521247.1:n.1627-32T>C
XM_011522946.1:c.604-32T>C	XP_011521248.1:n.604-32T>C
XM_011522947.1:c.604-32T>C	XP_011521249.1:n.604-32T>C
XM_011522948.1:c.1627-32T>C	XP_011521250.1:n.1627-32T>C
XR_933244.1:n.1670-32T>C
XR_933245.1:n.1670-32T>C
XR_933246.1:n.1670-32T>C
XR_933247.1:n.1670-32T>C
NM_000135.3:c.1627-32T>C	NP_000126.2:n.1627-32T>C
NM_001286167.2:c.1627-32T>C	NP_001273096.1:n.1627-32T>C
XM_005256294.4:c.1627-32T>C	XP_005256351.1:n.1627-32T>C
XM_011522945.2:c.1627-32T>C	XP_011521247.1:n.1627-32T>C
XM_011522946.3:c.604-32T>C	XP_011521248.1:n.604-32T>C
XM_011522947.2:c.604-32T>C	XP_011521249.1:n.604-32T>C
XM_011522948.2:c.1627-32T>C	XP_011521250.1:n.1627-32T>C
XM_017023044.2:c.1627-32T>C	XP_016878533.1:n.1627-32T>C
XM_017023045.1:c.1627-32T>C	XP_016878534.1:n.1627-32T>C
XM_024450189.1:c.604-32T>C	XP_024305957.1:n.604-32T>C
XR_001751866.1:n.1670-32T>C
XR_933244.2:n.1670-32T>C
XR_933245.2:n.1670-32T>C
XR_933247.2:n.1670-32T>C
NM_000135.4:c.1627-32T>C MANE Select	NP_000126.2:n.1627-32T>C
NM_001286167.3:c.1627-32T>C	NP_001273096.1:n.1627-32T>C