Canonical Allele Identifier: CA397484490

Gene: FANCA ZNF276

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89739220C>G , CM000678.2:g.89739220C>G	GRCh38
NC_000016.9:g.89805628C>G , CM000678.1:g.89805628C>G	GRCh37
NC_000016.8:g.88333129C>G	NCBI36
NG_011706.1:g.82438G>C , LRG_495:g.82438G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.4080G>C (FANCA) MANE Select	NP_000126.2:p.Met1360Ile
NM_001113525.2:c.*974C>G (ZNF276) MANE Select	NP_001106997.1:n.*974C>G
ENST00000389301.8:c.4080G>C (FANCA) MANE Select	ENSP00000373952.3:p.Met1360Ile
ENST00000443381.7:c.*974C>G (ZNF276) MANE Select	ENSP00000415836.2:n.*974C>G
NM_000135.2:c.4080G>C , LRG_495t1:c.4080G>C (FANCA)	NP_000126.2:p.Met1360Ile
NM_000135.3:c.4080G>C (FANCA)	NP_000126.2:p.Met1360Ile
NM_001113525.1:c.*974C>G (ZNF276)	NP_001106997.1:n.*974C>G
NM_001286167.1:c.4080G>C (FANCA)	NP_001273096.1:p.Met1360Ile
NM_001286167.2:c.4080G>C (FANCA)	NP_001273096.1:p.Met1360Ile
NM_001286167.3:c.4080G>C (FANCA)	NP_001273096.1:p.Met1360Ile
NM_152287.3:c.*974C>G (ZNF276)	NP_689500.2:n.*974C>G
NM_152287.4:c.*974C>G (ZNF276)	NP_689500.2:n.*974C>G
NR_110122.1:n.2991C>G (ZNF276)
NR_110122.2:n.2974C>G (ZNF276)
NR_110126.1:n.2874C>G (ZNF276)
NR_110126.2:n.2857C>G (ZNF276)
NR_110128.1:n.2797C>G (ZNF276)
NR_110128.2:n.2797C>G (ZNF276)
NR_110129.1:n.2886C>G (ZNF276)
NR_110129.2:n.2891C>G (ZNF276)
ENST00000289816.9:c.*974C>G (ZNF276)	ENSP00000289816.5:n.*974C>G
ENST00000389301.7:c.4080G>C (FANCA)	ENSP00000373952.3:p.Met1360Ile
ENST00000561667.2:c.*2653G>C (FANCA)	ENSP00000512522.1:n.*2653G>C
ENST00000561722.5:c.231G>C (FANCA)	ENSP00000456608.1:p.Met77Ile
ENST00000562424.1:n.351G>C (FANCA)
ENST00000563983.5:n.2807C>G (ZNF276)
ENST00000564475.5:c.410G>C (FANCA)
ENST00000564475.6:c.4080G>C (FANCA)	ENSP00000454977.2:p.Met1360Ile
ENST00000564870.1:c.281G>C (FANCA)
ENST00000567510.2:c.2650G>C (FANCA)	ENSP00000455969.1:n.2650G>C
ENST00000567879.5:c.459G>C (FANCA)	ENSP00000457006.1:p.Met153Ile
ENST00000568369.5:c.4080G>C (FANCA)	ENSP00000456829.1:p.Met1360Ile
ENST00000568369.6:c.4080G>C (FANCA)	ENSP00000456829.1:p.Met1360Ile
ENST00000696274.1:n.4041G>C (FANCA)
ENST00000696275.1:c.*3315G>C (FANCA)	ENSP00000512517.1:n.*3315G>C
ENST00000696286.1:c.4004G>C (FANCA)	ENSP00000512523.1:p.Cys1335Ser
ENST00000696287.1:c.3951G>C (FANCA)	ENSP00000512524.1:p.Met1317Ile
ENST00000696291.1:c.*3512G>C (FANCA)	ENSP00000512530.1:n.*3512G>C
XM_005256294.3:c.4080G>C (FANCA)	XP_005256351.1:p.Met1360Ile
XM_005256294.4:c.4080G>C (FANCA)	XP_005256351.1:p.Met1360Ile
XM_011522945.1:c.3951G>C (FANCA)	XP_011521247.1:p.Met1317Ile
XM_011522945.2:c.3951G>C (FANCA)	XP_011521247.1:p.Met1317Ile
XM_011522946.1:c.3057G>C (FANCA)	XP_011521248.1:p.Met1019Ile
XM_011522946.3:c.3057G>C (FANCA)	XP_011521248.1:p.Met1019Ile
XM_011522947.1:c.3057G>C (FANCA)	XP_011521249.1:p.Met1019Ile
XM_011522947.2:c.3057G>C (FANCA)	XP_011521249.1:p.Met1019Ile
XM_017023044.2:c.3951G>C (FANCA)	XP_016878533.1:p.Met1317Ile
XM_017023890.1:c.*974C>G (ZNF276)	XP_016879379.1:n.*974C>G
XM_024450189.1:c.3057G>C (FANCA)	XP_024305957.1:p.Met1019Ile
XR_001751866.1:n.3950G>C (FANCA)
XR_933244.1:n.4047G>C (FANCA)
XR_933244.2:n.4047G>C (FANCA)
XR_933245.1:n.3984G>C (FANCA)
XR_933245.2:n.3984G>C (FANCA)
XR_933484.2:n.2985C>G (ZNF276)