Canonical Allele Identifier: CA2635028947

Gene: FANCA

Linked Data

• gnomAD v4: 16-89752338-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89752338C>A , CM000678.2:g.89752338C>A	GRCh38
NC_000016.9:g.89818746C>A , CM000678.1:g.89818746C>A	GRCh37
NC_000016.8:g.88346247C>A	NCBI36
NG_011706.1:g.69320G>T , LRG_495:g.69320G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561667.2:c.*1460-116G>T	ENSP00000512522.1:n.*1460-116G>T
ENST00000564475.6:c.2982-116G>T	ENSP00000454977.2:n.2982-116G>T
ENST00000567510.2:c.1552-116G>T	ENSP00000455969.1:n.1552-116G>T
ENST00000568369.6:c.2982-116G>T	ENSP00000456829.1:n.2982-116G>T
ENST00000696274.1:n.2943-116G>T
ENST00000696275.1:c.*2217-116G>T	ENSP00000512517.1:n.*2217-116G>T
ENST00000696286.1:c.2982-116G>T	ENSP00000512523.1:n.2982-116G>T
ENST00000696287.1:c.2853-116G>T	ENSP00000512524.1:n.2853-116G>T
ENST00000696291.1:c.*2499-2436G>T	ENSP00000512530.1:n.*2499-2436G>T
ENST00000389301.8:c.2982-116G>T MANE Select	ENSP00000373952.3:n.2982-116G>T
ENST00000305699.15:n.225-116G>T
ENST00000389301.7:c.2982-116G>T	ENSP00000373952.3:n.2982-116G>T
ENST00000561660.1:c.359-116G>T
ENST00000563318.1:c.544-116G>T
ENST00000563510.5:c.372-116G>T
ENST00000567988.5:c.319-2436G>T
ENST00000568369.5:c.2982-116G>T	ENSP00000456829.1:n.2982-116G>T
NM_000135.2:c.2982-116G>T , LRG_495t1:c.2982-116G>T	NP_000126.2:n.2982-116G>T
NM_001286167.1:c.2982-116G>T	NP_001273096.1:n.2982-116G>T
XM_005256294.3:c.2982-116G>T	XP_005256351.1:n.2982-116G>T
XM_011522945.1:c.2853-116G>T	XP_011521247.1:n.2853-116G>T
XM_011522946.1:c.1959-116G>T	XP_011521248.1:n.1959-116G>T
XM_011522947.1:c.1959-116G>T	XP_011521249.1:n.1959-116G>T
XR_933244.1:n.3025-116G>T
XR_933245.1:n.3025-116G>T
XR_933246.1:n.3025-116G>T
NM_000135.3:c.2982-116G>T	NP_000126.2:n.2982-116G>T
NM_001286167.2:c.2982-116G>T	NP_001273096.1:n.2982-116G>T
XM_005256294.4:c.2982-116G>T	XP_005256351.1:n.2982-116G>T
XM_011522945.2:c.2853-116G>T	XP_011521247.1:n.2853-116G>T
XM_011522946.3:c.1959-116G>T	XP_011521248.1:n.1959-116G>T
XM_011522947.2:c.1959-116G>T	XP_011521249.1:n.1959-116G>T
XM_017023044.2:c.2853-116G>T	XP_016878533.1:n.2853-116G>T
XM_024450189.1:c.1959-116G>T	XP_024305957.1:n.1959-116G>T
XR_001751866.1:n.3025-116G>T
XR_933244.2:n.3025-116G>T
XR_933245.2:n.3025-116G>T
NM_000135.4:c.2982-116G>T MANE Select	NP_000126.2:n.2982-116G>T
NM_001286167.3:c.2982-116G>T	NP_001273096.1:n.2982-116G>T