Canonical Allele Identifier: CA8251389

Gene: FANCA

Linked Data

• ClinVar Variation Id: 1663242
• ClinVar RCV Id: RCV002188393
• dbSNP Id: rs55718325
• ExAC: 16:89818645 C / T
• gnomAD v2: 16-89818645-C-T
• gnomAD v3: 16-89752237-C-T
• gnomAD v4: 16-89752237-C-T
• COSMIC: COSN26727640
• MyVariant Identifiers: chr16:g.89818645C>T (hg19) ; chr16:g.89752237C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89752237C>T , CM000678.2:g.89752237C>T	GRCh38
NC_000016.9:g.89818645C>T , CM000678.1:g.89818645C>T	GRCh37
NC_000016.8:g.88346146C>T	NCBI36
NG_011706.1:g.69421G>A , LRG_495:g.69421G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561667.2:c.*1460-15G>A	ENSP00000512522.1:n.*1460-15G>A
ENST00000564475.6:c.2982-15G>A	ENSP00000454977.2:n.2982-15G>A
ENST00000567510.2:c.1552-15G>A	ENSP00000455969.1:n.1552-15G>A
ENST00000568369.6:c.2982-15G>A	ENSP00000456829.1:n.2982-15G>A
ENST00000696274.1:n.2943-15G>A
ENST00000696275.1:c.*2217-15G>A	ENSP00000512517.1:n.*2217-15G>A
ENST00000696286.1:c.2982-15G>A	ENSP00000512523.1:n.2982-15G>A
ENST00000696287.1:c.2853-15G>A	ENSP00000512524.1:n.2853-15G>A
ENST00000696291.1:c.*2499-2335G>A	ENSP00000512530.1:n.*2499-2335G>A
ENST00000389301.8:c.2982-15G>A MANE Select	ENSP00000373952.3:n.2982-15G>A
ENST00000305699.15:n.225-15G>A
ENST00000389301.7:c.2982-15G>A	ENSP00000373952.3:n.2982-15G>A
ENST00000561660.1:c.359-15G>A
ENST00000563318.1:c.544-15G>A
ENST00000563510.5:c.372-15G>A
ENST00000567988.5:c.319-2335G>A
ENST00000568369.5:c.2982-15G>A	ENSP00000456829.1:n.2982-15G>A
NM_000135.2:c.2982-15G>A , LRG_495t1:c.2982-15G>A	NP_000126.2:n.2982-15G>A
NM_001286167.1:c.2982-15G>A	NP_001273096.1:n.2982-15G>A
XM_005256294.3:c.2982-15G>A	XP_005256351.1:n.2982-15G>A
XM_011522945.1:c.2853-15G>A	XP_011521247.1:n.2853-15G>A
XM_011522946.1:c.1959-15G>A	XP_011521248.1:n.1959-15G>A
XM_011522947.1:c.1959-15G>A	XP_011521249.1:n.1959-15G>A
XR_933244.1:n.3025-15G>A
XR_933245.1:n.3025-15G>A
XR_933246.1:n.3025-15G>A
NM_000135.3:c.2982-15G>A	NP_000126.2:n.2982-15G>A
NM_001286167.2:c.2982-15G>A	NP_001273096.1:n.2982-15G>A
XM_005256294.4:c.2982-15G>A	XP_005256351.1:n.2982-15G>A
XM_011522945.2:c.2853-15G>A	XP_011521247.1:n.2853-15G>A
XM_011522946.3:c.1959-15G>A	XP_011521248.1:n.1959-15G>A
XM_011522947.2:c.1959-15G>A	XP_011521249.1:n.1959-15G>A
XM_017023044.2:c.2853-15G>A	XP_016878533.1:n.2853-15G>A
XM_024450189.1:c.1959-15G>A	XP_024305957.1:n.1959-15G>A
XR_001751866.1:n.3025-15G>A
XR_933244.2:n.3025-15G>A
XR_933245.2:n.3025-15G>A
NM_000135.4:c.2982-15G>A MANE Select	NP_000126.2:n.2982-15G>A
NM_001286167.3:c.2982-15G>A	NP_001273096.1:n.2982-15G>A