Canonical Allele Identifier: CA397484334

Gene: FANCA ZNF276

Linked Data

• gnomAD v4: 16-89739176-G-C
• MyVariant Identifiers: chr16:g.89805584G>C (hg19) ; chr16:g.89739176G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89739176G>C , CM000678.2:g.89739176G>C	GRCh38
NC_000016.9:g.89805584G>C , CM000678.1:g.89805584G>C	GRCh37
NC_000016.8:g.88333085G>C	NCBI36
NG_011706.1:g.82482C>G , LRG_495:g.82482C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2697C>G (FANCA)	ENSP00000512522.1:n.*2697C>G
ENST00000564475.6:c.4124C>G (FANCA)	ENSP00000454977.2:p.Thr1375Arg
ENST00000567510.2:c.2694C>G (FANCA)	ENSP00000455969.1:n.2694C>G
ENST00000568369.6:c.4124C>G (FANCA)	ENSP00000456829.1:p.Thr1375Arg
ENST00000696274.1:n.4085C>G (FANCA)
ENST00000696275.1:c.*3359C>G (FANCA)	ENSP00000512517.1:n.*3359C>G
ENST00000696286.1:c.*37C>G (FANCA)	ENSP00000512523.1:n.*37C>G
ENST00000696287.1:c.3995C>G (FANCA)	ENSP00000512524.1:p.Thr1332Arg
ENST00000696291.1:c.*3556C>G (FANCA)	ENSP00000512530.1:n.*3556C>G
ENST00000389301.8:c.4124C>G (FANCA) MANE Select	ENSP00000373952.3:p.Thr1375Arg
ENST00000443381.7:c.*930G>C (ZNF276) MANE Select	ENSP00000415836.2:n.*930G>C
ENST00000289816.9:c.*930G>C (ZNF276)	ENSP00000289816.5:n.*930G>C
ENST00000389301.7:c.4124C>G (FANCA)	ENSP00000373952.3:p.Thr1375Arg
ENST00000561722.5:c.275C>G (FANCA)	ENSP00000456608.1:p.Thr92Arg
ENST00000562424.1:n.395C>G (FANCA)
ENST00000563983.5:n.2763G>C (ZNF276)
ENST00000564475.5:c.454C>G (FANCA)
ENST00000564870.1:c.325C>G (FANCA)
ENST00000567879.5:c.503C>G (FANCA)	ENSP00000457006.1:p.Thr168Arg
ENST00000568369.5:c.4124C>G (FANCA)	ENSP00000456829.1:p.Thr1375Arg
NM_000135.2:c.4124C>G , LRG_495t1:c.4124C>G (FANCA)	NP_000126.2:p.Thr1375Arg
NM_001113525.1:c.*930G>C (ZNF276)	NP_001106997.1:n.*930G>C
NM_001286167.1:c.4124C>G (FANCA)	NP_001273096.1:p.Thr1375Arg
NM_152287.3:c.*930G>C (ZNF276)	NP_689500.2:n.*930G>C
NR_110122.1:n.2947G>C (ZNF276)
NR_110126.1:n.2830G>C (ZNF276)
NR_110128.1:n.2753G>C (ZNF276)
NR_110129.1:n.2842G>C (ZNF276)
XM_005256294.3:c.4124C>G (FANCA)	XP_005256351.1:p.Thr1375Arg
XM_011522945.1:c.3995C>G (FANCA)	XP_011521247.1:p.Thr1332Arg
XM_011522946.1:c.3101C>G (FANCA)	XP_011521248.1:p.Thr1034Arg
XM_011522947.1:c.3101C>G (FANCA)	XP_011521249.1:p.Thr1034Arg
XR_933244.1:n.4091C>G (FANCA)
XR_933245.1:n.4028C>G (FANCA)
NM_000135.3:c.4124C>G (FANCA)	NP_000126.2:p.Thr1375Arg
NM_001286167.2:c.4124C>G (FANCA)	NP_001273096.1:p.Thr1375Arg
XM_005256294.4:c.4124C>G (FANCA)	XP_005256351.1:p.Thr1375Arg
XM_011522945.2:c.3995C>G (FANCA)	XP_011521247.1:p.Thr1332Arg
XM_011522946.3:c.3101C>G (FANCA)	XP_011521248.1:p.Thr1034Arg
XM_011522947.2:c.3101C>G (FANCA)	XP_011521249.1:p.Thr1034Arg
XM_017023044.2:c.3995C>G (FANCA)	XP_016878533.1:p.Thr1332Arg
XM_017023890.1:c.*930G>C (ZNF276)	XP_016879379.1:n.*930G>C
XM_024450189.1:c.3101C>G (FANCA)	XP_024305957.1:p.Thr1034Arg
XR_933244.2:n.4091C>G (FANCA)
XR_933245.2:n.4028C>G (FANCA)
XR_933484.2:n.2941G>C (ZNF276)
NM_000135.4:c.4124C>G (FANCA) MANE Select	NP_000126.2:p.Thr1375Arg
NM_001113525.2:c.*930G>C (ZNF276) MANE Select	NP_001106997.1:n.*930G>C
NM_001286167.3:c.4124C>G (FANCA)	NP_001273096.1:p.Thr1375Arg
NM_152287.4:c.*930G>C (ZNF276)	NP_689500.2:n.*930G>C
NR_110122.2:n.2930G>C (ZNF276)
NR_110126.2:n.2813G>C (ZNF276)
NR_110129.2:n.2847G>C (ZNF276)
NR_110128.2:n.2753G>C (ZNF276)