Canonical Allele Identifier: CA397484349

Gene: FANCA ZNF276

Linked Data

• ClinVar Variation Id: 1319246
• ClinVar RCV Id: RCV003238554
• dbSNP Id: rs1277481284
• MyVariant Identifiers: chr16:g.89805590G>T (hg19) ; chr16:g.89739182G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89739182G>T , CM000678.2:g.89739182G>T	GRCh38
NC_000016.9:g.89805590G>T , CM000678.1:g.89805590G>T	GRCh37
NC_000016.8:g.88333091G>T	NCBI36
NG_011706.1:g.82476C>A , LRG_495:g.82476C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2691C>A (FANCA)	ENSP00000512522.1:n.*2691C>A
ENST00000564475.6:c.4118C>A (FANCA)	ENSP00000454977.2:p.Thr1373Lys
ENST00000567510.2:c.2688C>A (FANCA)	ENSP00000455969.1:n.2688C>A
ENST00000568369.6:c.4118C>A (FANCA)	ENSP00000456829.1:p.Thr1373Lys
ENST00000696274.1:n.4079C>A (FANCA)
ENST00000696275.1:c.*3353C>A (FANCA)	ENSP00000512517.1:n.*3353C>A
ENST00000696286.1:c.*31C>A (FANCA)	ENSP00000512523.1:n.*31C>A
ENST00000696287.1:c.3989C>A (FANCA)	ENSP00000512524.1:p.Thr1330Lys
ENST00000696291.1:c.*3550C>A (FANCA)	ENSP00000512530.1:n.*3550C>A
ENST00000389301.8:c.4118C>A (FANCA) MANE Select	ENSP00000373952.3:p.Thr1373Lys
ENST00000443381.7:c.*936G>T (ZNF276) MANE Select	ENSP00000415836.2:n.*936G>T
ENST00000289816.9:c.*936G>T (ZNF276)	ENSP00000289816.5:n.*936G>T
ENST00000389301.7:c.4118C>A (FANCA)	ENSP00000373952.3:p.Thr1373Lys
ENST00000561722.5:c.269C>A (FANCA)	ENSP00000456608.1:p.Thr90Lys
ENST00000562424.1:n.389C>A (FANCA)
ENST00000563983.5:n.2769G>T (ZNF276)
ENST00000564475.5:c.448C>A (FANCA)
ENST00000564870.1:c.319C>A (FANCA)
ENST00000567879.5:c.497C>A (FANCA)	ENSP00000457006.1:p.Thr166Lys
ENST00000568369.5:c.4118C>A (FANCA)	ENSP00000456829.1:p.Thr1373Lys
NM_000135.2:c.4118C>A , LRG_495t1:c.4118C>A (FANCA)	NP_000126.2:p.Thr1373Lys
NM_001113525.1:c.*936G>T (ZNF276)	NP_001106997.1:n.*936G>T
NM_001286167.1:c.4118C>A (FANCA)	NP_001273096.1:p.Thr1373Lys
NM_152287.3:c.*936G>T (ZNF276)	NP_689500.2:n.*936G>T
NR_110122.1:n.2953G>T (ZNF276)
NR_110126.1:n.2836G>T (ZNF276)
NR_110128.1:n.2759G>T (ZNF276)
NR_110129.1:n.2848G>T (ZNF276)
XM_005256294.3:c.4118C>A (FANCA)	XP_005256351.1:p.Thr1373Lys
XM_011522945.1:c.3989C>A (FANCA)	XP_011521247.1:p.Thr1330Lys
XM_011522946.1:c.3095C>A (FANCA)	XP_011521248.1:p.Thr1032Lys
XM_011522947.1:c.3095C>A (FANCA)	XP_011521249.1:p.Thr1032Lys
XR_933244.1:n.4085C>A (FANCA)
XR_933245.1:n.4022C>A (FANCA)
NM_000135.3:c.4118C>A (FANCA)	NP_000126.2:p.Thr1373Lys
NM_001286167.2:c.4118C>A (FANCA)	NP_001273096.1:p.Thr1373Lys
XM_005256294.4:c.4118C>A (FANCA)	XP_005256351.1:p.Thr1373Lys
XM_011522945.2:c.3989C>A (FANCA)	XP_011521247.1:p.Thr1330Lys
XM_011522946.3:c.3095C>A (FANCA)	XP_011521248.1:p.Thr1032Lys
XM_011522947.2:c.3095C>A (FANCA)	XP_011521249.1:p.Thr1032Lys
XM_017023044.2:c.3989C>A (FANCA)	XP_016878533.1:p.Thr1330Lys
XM_017023890.1:c.*936G>T (ZNF276)	XP_016879379.1:n.*936G>T
XM_024450189.1:c.3095C>A (FANCA)	XP_024305957.1:p.Thr1032Lys
XR_933244.2:n.4085C>A (FANCA)
XR_933245.2:n.4022C>A (FANCA)
XR_933484.2:n.2947G>T (ZNF276)
NM_000135.4:c.4118C>A (FANCA) MANE Select	NP_000126.2:p.Thr1373Lys
NM_001113525.2:c.*936G>T (ZNF276) MANE Select	NP_001106997.1:n.*936G>T
NM_001286167.3:c.4118C>A (FANCA)	NP_001273096.1:p.Thr1373Lys
NM_152287.4:c.*936G>T (ZNF276)	NP_689500.2:n.*936G>T
NR_110122.2:n.2936G>T (ZNF276)
NR_110126.2:n.2819G>T (ZNF276)
NR_110129.2:n.2853G>T (ZNF276)
NR_110128.2:n.2759G>T (ZNF276)