Canonical Allele Identifier: CA397484290

Gene: FANCA ZNF276

Linked Data

• gnomAD v4: 16-89739151-G-T
• MyVariant Identifiers: chr16:g.89805559G>T (hg19) ; chr16:g.89739151G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89739151G>T , CM000678.2:g.89739151G>T	GRCh38
NC_000016.9:g.89805559G>T , CM000678.1:g.89805559G>T	GRCh37
NC_000016.8:g.88333060G>T	NCBI36
NG_011706.1:g.82507C>A , LRG_495:g.82507C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2722C>A (FANCA)	ENSP00000512522.1:n.*2722C>A
ENST00000564475.6:c.4149C>A (FANCA)	ENSP00000454977.2:p.Ser1383Arg
ENST00000567510.2:c.2719C>A (FANCA)	ENSP00000455969.1:n.2719C>A
ENST00000568369.6:c.4149C>A (FANCA)	ENSP00000456829.1:p.Ser1383Arg
ENST00000696274.1:n.4110C>A (FANCA)
ENST00000696275.1:c.*3384C>A (FANCA)	ENSP00000512517.1:n.*3384C>A
ENST00000696286.1:c.*62C>A (FANCA)	ENSP00000512523.1:n.*62C>A
ENST00000696287.1:c.4020C>A (FANCA)	ENSP00000512524.1:p.Ser1340Arg
ENST00000696291.1:c.*3581C>A (FANCA)	ENSP00000512530.1:n.*3581C>A
ENST00000389301.8:c.4149C>A (FANCA) MANE Select	ENSP00000373952.3:p.Ser1383Arg
ENST00000443381.7:c.*905G>T (ZNF276) MANE Select	ENSP00000415836.2:n.*905G>T
ENST00000289816.9:c.*905G>T (ZNF276)	ENSP00000289816.5:n.*905G>T
ENST00000389301.7:c.4149C>A (FANCA)	ENSP00000373952.3:p.Ser1383Arg
ENST00000561722.5:c.300C>A (FANCA)	ENSP00000456608.1:p.Ser100Arg
ENST00000562424.1:n.420C>A (FANCA)
ENST00000563983.5:n.2738G>T (ZNF276)
ENST00000564475.5:c.479C>A (FANCA)
ENST00000564870.1:c.350C>A (FANCA)
ENST00000567879.5:c.528C>A (FANCA)	ENSP00000457006.1:p.Ser176Arg
ENST00000568369.5:c.4149C>A (FANCA)	ENSP00000456829.1:p.Ser1383Arg
NM_000135.2:c.4149C>A , LRG_495t1:c.4149C>A (FANCA)	NP_000126.2:p.Ser1383Arg
NM_001113525.1:c.*905G>T (ZNF276)	NP_001106997.1:n.*905G>T
NM_001286167.1:c.4149C>A (FANCA)	NP_001273096.1:p.Ser1383Arg
NM_152287.3:c.*905G>T (ZNF276)	NP_689500.2:n.*905G>T
NR_110122.1:n.2922G>T (ZNF276)
NR_110126.1:n.2805G>T (ZNF276)
NR_110128.1:n.2728G>T (ZNF276)
NR_110129.1:n.2817G>T (ZNF276)
XM_005256294.3:c.4149C>A (FANCA)	XP_005256351.1:p.Ser1383Arg
XM_011522945.1:c.4020C>A (FANCA)	XP_011521247.1:p.Ser1340Arg
XM_011522946.1:c.3126C>A (FANCA)	XP_011521248.1:p.Ser1042Arg
XM_011522947.1:c.3126C>A (FANCA)	XP_011521249.1:p.Ser1042Arg
XR_933244.1:n.4116C>A (FANCA)
XR_933245.1:n.4053C>A (FANCA)
NM_000135.3:c.4149C>A (FANCA)	NP_000126.2:p.Ser1383Arg
NM_001286167.2:c.4149C>A (FANCA)	NP_001273096.1:p.Ser1383Arg
XM_005256294.4:c.4149C>A (FANCA)	XP_005256351.1:p.Ser1383Arg
XM_011522945.2:c.4020C>A (FANCA)	XP_011521247.1:p.Ser1340Arg
XM_011522946.3:c.3126C>A (FANCA)	XP_011521248.1:p.Ser1042Arg
XM_011522947.2:c.3126C>A (FANCA)	XP_011521249.1:p.Ser1042Arg
XM_017023044.2:c.4020C>A (FANCA)	XP_016878533.1:p.Ser1340Arg
XM_017023890.1:c.*905G>T (ZNF276)	XP_016879379.1:n.*905G>T
XM_024450189.1:c.3126C>A (FANCA)	XP_024305957.1:p.Ser1042Arg
XR_933244.2:n.4116C>A (FANCA)
XR_933245.2:n.4053C>A (FANCA)
XR_933484.2:n.2916G>T (ZNF276)
NM_000135.4:c.4149C>A (FANCA) MANE Select	NP_000126.2:p.Ser1383Arg
NM_001113525.2:c.*905G>T (ZNF276) MANE Select	NP_001106997.1:n.*905G>T
NM_001286167.3:c.4149C>A (FANCA)	NP_001273096.1:p.Ser1383Arg
NM_152287.4:c.*905G>T (ZNF276)	NP_689500.2:n.*905G>T
NR_110122.2:n.2905G>T (ZNF276)
NR_110126.2:n.2788G>T (ZNF276)
NR_110129.2:n.2822G>T (ZNF276)
NR_110128.2:n.2728G>T (ZNF276)