Canonical Allele Identifier: CA397485217

Gene: FANCA ZNF276

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89740848A>G , CM000678.2:g.89740848A>G	GRCh38
NC_000016.9:g.89807256A>G , CM000678.1:g.89807256A>G	GRCh37
NC_000016.8:g.88334757A>G	NCBI36
NG_011706.1:g.80810T>C , LRG_495:g.80810T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000135.4:c.3784T>C (FANCA) MANE Select	NP_000126.2:p.Phe1262Leu
NM_001113525.2:c.*2602A>G (ZNF276) MANE Select	NP_001106997.1:n.*2602A>G
ENST00000389301.8:c.3784T>C (FANCA) MANE Select	ENSP00000373952.3:p.Phe1262Leu
ENST00000443381.7:c.*2602A>G (ZNF276) MANE Select	ENSP00000415836.2:n.*2602A>G
NM_000135.2:c.3784T>C , LRG_495t1:c.3784T>C (FANCA)	NP_000126.2:p.Phe1262Leu
NM_000135.3:c.3784T>C (FANCA)	NP_000126.2:p.Phe1262Leu
NM_001113525.1:c.*2602A>G (ZNF276)	NP_001106997.1:n.*2602A>G
NM_001286167.1:c.3784T>C (FANCA)	NP_001273096.1:p.Phe1262Leu
NM_001286167.2:c.3784T>C (FANCA)	NP_001273096.1:p.Phe1262Leu
NM_001286167.3:c.3784T>C (FANCA)	NP_001273096.1:p.Phe1262Leu
NM_152287.3:c.*2602A>G (ZNF276)	NP_689500.2:n.*2602A>G
NM_152287.4:c.*2602A>G (ZNF276)	NP_689500.2:n.*2602A>G
NR_110122.2:n.4602A>G (ZNF276)
NR_110126.2:n.4485A>G (ZNF276)
NR_110128.2:n.4425A>G (ZNF276)
NR_110129.2:n.4519A>G (ZNF276)
ENST00000289816.9:c.*2602A>G (ZNF276)	ENSP00000289816.5:n.*2602A>G
ENST00000305699.15:n.1027T>C (FANCA)
ENST00000389301.7:c.3784T>C (FANCA)	ENSP00000373952.3:p.Phe1262Leu
ENST00000561667.2:c.*2262T>C (FANCA)	ENSP00000512522.1:n.*2262T>C
ENST00000564475.5:c.114T>C (FANCA)
ENST00000564475.6:c.3784T>C (FANCA)	ENSP00000454977.2:p.Phe1262Leu
ENST00000564870.1:c.30-749T>C (FANCA)
ENST00000564969.5:n.69T>C (FANCA)
ENST00000567510.2:c.2354T>C (FANCA)	ENSP00000455969.1:n.2354T>C
ENST00000567879.5:c.262T>C (FANCA)	ENSP00000457006.1:p.Phe88Leu
ENST00000568369.5:c.3784T>C (FANCA)	ENSP00000456829.1:p.Phe1262Leu
ENST00000568369.6:c.3784T>C (FANCA)	ENSP00000456829.1:p.Phe1262Leu
ENST00000568626.1:c.493T>C (FANCA)
ENST00000696274.1:n.3745T>C (FANCA)
ENST00000696275.1:c.*3019T>C (FANCA)	ENSP00000512517.1:n.*3019T>C
ENST00000696286.1:c.3784T>C (FANCA)	ENSP00000512523.1:p.Phe1262Leu
ENST00000696287.1:c.3655T>C (FANCA)	ENSP00000512524.1:p.Phe1219Leu
ENST00000696291.1:c.*3216T>C (FANCA)	ENSP00000512530.1:n.*3216T>C
XM_005256294.3:c.3784T>C (FANCA)	XP_005256351.1:p.Phe1262Leu
XM_005256294.4:c.3784T>C (FANCA)	XP_005256351.1:p.Phe1262Leu
XM_011522945.1:c.3655T>C (FANCA)	XP_011521247.1:p.Phe1219Leu
XM_011522945.2:c.3655T>C (FANCA)	XP_011521247.1:p.Phe1219Leu
XM_011522946.1:c.2761T>C (FANCA)	XP_011521248.1:p.Phe921Leu
XM_011522946.3:c.2761T>C (FANCA)	XP_011521248.1:p.Phe921Leu
XM_011522947.1:c.2761T>C (FANCA)	XP_011521249.1:p.Phe921Leu
XM_011522947.2:c.2761T>C (FANCA)	XP_011521249.1:p.Phe921Leu
XM_017023044.2:c.3655T>C (FANCA)	XP_016878533.1:p.Phe1219Leu
XM_024450189.1:c.2761T>C (FANCA)	XP_024305957.1:p.Phe921Leu
XR_001751866.1:n.3654T>C (FANCA)
XR_933244.1:n.3827T>C (FANCA)
XR_933244.2:n.3827T>C (FANCA)
XR_933245.1:n.3688T>C (FANCA)
XR_933245.2:n.3688T>C (FANCA)
XR_933246.1:n.3654T>C (FANCA)