Canonical Allele Identifier: CA2241889537
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89739079G= , CM000678.2:g.89739079G= GRCh38
NC_000016.9:g.89805487G= , CM000678.1:g.89805487G= GRCh37
NC_000016.8:g.88332988G= NCBI36
NG_011706.1:g.82579C= , LRG_495:g.82579C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*2740+54C= (FANCA) ENSP00000512522.1:n.*2740+54C=
ENST00000564475.6:c.4171+50C= (FANCA) ENSP00000454977.2:n.4171+50C=
ENST00000567510.2:c.2741+50C= (FANCA) ENSP00000455969.1:n.2741+50C=
ENST00000568369.6:c.4171+50C= (FANCA) ENSP00000456829.1:n.4171+50C=
ENST00000696274.1:n.4128+54C= (FANCA)
ENST00000696275.1:c.*3406+50C= (FANCA) ENSP00000512517.1:n.*3406+50C=
ENST00000696286.1:c.*80+54C= (FANCA) ENSP00000512523.1:n.*80+54C=
ENST00000696287.1:c.4042+50C= (FANCA) ENSP00000512524.1:n.4042+50C=
ENST00000696291.1:c.*3599+54C= (FANCA) ENSP00000512530.1:n.*3599+54C=
ENST00000389301.8:c.4167+54C= (FANCA) MANE Select ENSP00000373952.3:n.4167+54C=
ENST00000443381.7:c.*833G= (ZNF276) MANE Select ENSP00000415836.2:n.*833G=
ENST00000289816.9:c.*833G= (ZNF276) ENSP00000289816.5:n.*833G=
ENST00000389301.7:c.4167+54C= (FANCA) ENSP00000373952.3:n.4167+54C=
ENST00000561722.5:c.372C= (FANCA) ENSP00000456608.1:p.Leu124=
ENST00000562424.1:n.438+54C= (FANCA)
ENST00000563983.5:n.2666G= (ZNF276)
ENST00000564475.5:c.501+50C= (FANCA)
ENST00000564870.1:c.368+54C= (FANCA)
ENST00000567879.5:c.541+59C= (FANCA) ENSP00000457006.1:n.541+59C=
ENST00000568369.5:c.4171+50C= (FANCA) ENSP00000456829.1:n.4171+50C=
NM_000135.2:c.4167+54C= , LRG_495t1:c.4167+54C= (FANCA) NP_000126.2:n.4167+54C=
NM_001113525.1:c.*833G= (ZNF276) NP_001106997.1:n.*833G=
NM_001286167.1:c.4171+50C= (FANCA) NP_001273096.1:n.4171+50C=
NM_152287.3:c.*833G= (ZNF276) NP_689500.2:n.*833G=
NR_110122.1:n.2850G= (ZNF276)
NR_110126.1:n.2733G= (ZNF276)
NR_110128.1:n.2656G= (ZNF276)
NR_110129.1:n.2745G= (ZNF276)
XM_005256294.3:c.4171+50C= (FANCA) XP_005256351.1:n.4171+50C=
XM_011522945.1:c.4042+50C= (FANCA) XP_011521247.1:n.4042+50C=
XM_011522946.1:c.3148+50C= (FANCA) XP_011521248.1:n.3148+50C=
XM_011522947.1:c.3148+50C= (FANCA) XP_011521249.1:n.3148+50C=
XR_933244.1:n.4134+54C= (FANCA)
XR_933245.1:n.4071+54C= (FANCA)
NM_000135.3:c.4167+54C= (FANCA) NP_000126.2:n.4167+54C=
NM_001286167.2:c.4171+50C= (FANCA) NP_001273096.1:n.4171+50C=
XM_005256294.4:c.4171+50C= (FANCA) XP_005256351.1:n.4171+50C=
XM_011522945.2:c.4042+50C= (FANCA) XP_011521247.1:n.4042+50C=
XM_011522946.3:c.3148+50C= (FANCA) XP_011521248.1:n.3148+50C=
XM_011522947.2:c.3148+50C= (FANCA) XP_011521249.1:n.3148+50C=
XM_017023044.2:c.4038+54C= (FANCA) XP_016878533.1:n.4038+54C=
XM_017023890.1:c.*833G= (ZNF276) XP_016879379.1:n.*833G=
XM_024450189.1:c.3148+50C= (FANCA) XP_024305957.1:n.3148+50C=
XR_933244.2:n.4134+54C= (FANCA)
XR_933245.2:n.4071+54C= (FANCA)
XR_933484.2:n.2844G= (ZNF276)
NM_000135.4:c.4167+54C= (FANCA) MANE Select NP_000126.2:n.4167+54C=
NM_001113525.2:c.*833G= (ZNF276) MANE Select NP_001106997.1:n.*833G=
NM_001286167.3:c.4171+50C= (FANCA) NP_001273096.1:n.4171+50C=
NM_152287.4:c.*833G= (ZNF276) NP_689500.2:n.*833G=
NR_110122.2:n.2833G= (ZNF276)
NR_110126.2:n.2716G= (ZNF276)
NR_110129.2:n.2750G= (ZNF276)
NR_110128.2:n.2656G= (ZNF276)