Canonical Allele Identifier: CA397483653

Gene: FANCA ZNF276

Linked Data

• ClinVar Variation Id: 1319517
• ClinVar RCV Id: RCV003237517
• dbSNP Id: rs2151710869
• gnomAD v4: 16-89738950-T-C
• MyVariant Identifiers: chr16:g.89805358T>C (hg19) ; chr16:g.89738950T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738950T>C , CM000678.2:g.89738950T>C	GRCh38
NC_000016.9:g.89805358T>C , CM000678.1:g.89805358T>C	GRCh37
NC_000016.8:g.88332859T>C	NCBI36
NG_011706.1:g.82708A>G , LRG_495:g.82708A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2765A>G (FANCA)	ENSP00000512522.1:n.*2765A>G
ENST00000564475.6:c.4196A>G (FANCA)	ENSP00000454977.2:p.Lys1399Arg
ENST00000567510.2:c.2766A>G (FANCA)	ENSP00000455969.1:n.2766A>G
ENST00000568369.6:c.4196A>G (FANCA)	ENSP00000456829.1:p.Lys1399Arg
ENST00000696274.1:n.4153A>G (FANCA)
ENST00000696275.1:c.*3431A>G (FANCA)	ENSP00000512517.1:n.*3431A>G
ENST00000696286.1:c.*105A>G (FANCA)	ENSP00000512523.1:n.*105A>G
ENST00000696287.1:c.4067A>G (FANCA)	ENSP00000512524.1:p.Lys1356Arg
ENST00000696291.1:c.*3624A>G (FANCA)	ENSP00000512530.1:n.*3624A>G
ENST00000389301.8:c.4192A>G (FANCA) MANE Select	ENSP00000373952.3:p.Lys1398Glu
ENST00000443381.7:c.*704T>C (ZNF276) MANE Select	ENSP00000415836.2:n.*704T>C
ENST00000289816.9:c.*704T>C (ZNF276)	ENSP00000289816.5:n.*704T>C
ENST00000389301.7:c.4192A>G (FANCA)	ENSP00000373952.3:p.Lys1398Glu
ENST00000561722.5:c.436-24A>G (FANCA)	ENSP00000456608.1:n.436-24A>G
ENST00000562424.1:n.463A>G (FANCA)
ENST00000563983.5:n.2537T>C (ZNF276)
ENST00000564475.5:c.526A>G (FANCA)
ENST00000564870.1:c.393A>G (FANCA)
ENST00000567879.5:c.566A>G (FANCA)	ENSP00000457006.1:p.Lys189Arg
ENST00000568369.5:c.4196A>G (FANCA)	ENSP00000456829.1:p.Lys1399Arg
NM_000135.2:c.4192A>G , LRG_495t1:c.4192A>G (FANCA)	NP_000126.2:p.Lys1398Glu
NM_001113525.1:c.*704T>C (ZNF276)	NP_001106997.1:n.*704T>C
NM_001286167.1:c.4196A>G (FANCA)	NP_001273096.1:p.Lys1399Arg
NM_152287.3:c.*704T>C (ZNF276)	NP_689500.2:n.*704T>C
NR_110122.1:n.2721T>C (ZNF276)
NR_110126.1:n.2604T>C (ZNF276)
NR_110128.1:n.2527T>C (ZNF276)
NR_110129.1:n.2616T>C (ZNF276)
XM_005256294.3:c.4196A>G (FANCA)	XP_005256351.1:p.Lys1399Arg
XM_011522945.1:c.4067A>G (FANCA)	XP_011521247.1:p.Lys1356Arg
XM_011522946.1:c.3173A>G (FANCA)	XP_011521248.1:p.Lys1058Arg
XM_011522947.1:c.3173A>G (FANCA)	XP_011521249.1:p.Lys1058Arg
XR_933244.1:n.4159A>G (FANCA)
XR_933245.1:n.4096A>G (FANCA)
NM_000135.3:c.4192A>G (FANCA)	NP_000126.2:p.Lys1398Glu
NM_001286167.2:c.4196A>G (FANCA)	NP_001273096.1:p.Lys1399Arg
XM_005256294.4:c.4196A>G (FANCA)	XP_005256351.1:p.Lys1399Arg
XM_011522945.2:c.4067A>G (FANCA)	XP_011521247.1:p.Lys1356Arg
XM_011522946.3:c.3173A>G (FANCA)	XP_011521248.1:p.Lys1058Arg
XM_011522947.2:c.3173A>G (FANCA)	XP_011521249.1:p.Lys1058Arg
XM_017023044.2:c.4063A>G (FANCA)	XP_016878533.1:p.Lys1355Glu
XM_017023890.1:c.*704T>C (ZNF276)	XP_016879379.1:n.*704T>C
XM_024450189.1:c.3173A>G (FANCA)	XP_024305957.1:p.Lys1058Arg
XR_933244.2:n.4159A>G (FANCA)
XR_933245.2:n.4096A>G (FANCA)
XR_933484.2:n.2715T>C (ZNF276)
NM_000135.4:c.4192A>G (FANCA) MANE Select	NP_000126.2:p.Lys1398Glu
NM_001113525.2:c.*704T>C (ZNF276) MANE Select	NP_001106997.1:n.*704T>C
NM_001286167.3:c.4196A>G (FANCA)	NP_001273096.1:p.Lys1399Arg
NM_152287.4:c.*704T>C (ZNF276)	NP_689500.2:n.*704T>C
NR_110122.2:n.2704T>C (ZNF276)
NR_110126.2:n.2587T>C (ZNF276)
NR_110129.2:n.2621T>C (ZNF276)
NR_110128.2:n.2527T>C (ZNF276)