Canonical Allele Identifier: CA10649308

Gene: FANCA ZNF276

Linked Data

• ClinVar Variation Id: 321332
• ClinVar RCV Id: RCV000327839 ; RCV002061214
• dbSNP Id: rs886052480
• gnomAD v4: 16-89740807-T-C
• MyVariant Identifiers: chr16:g.89807215T>C (hg19) ; chr16:g.89740807T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89740807T>C , CM000678.2:g.89740807T>C	GRCh38
NC_000016.9:g.89807215T>C , CM000678.1:g.89807215T>C	GRCh37
NC_000016.8:g.88334716T>C	NCBI36
NG_011706.1:g.80851A>G , LRG_495:g.80851A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2303A>G (FANCA)	ENSP00000512522.1:n.*2303A>G
ENST00000564475.6:c.3825A>G (FANCA)	ENSP00000454977.2:p.Ser1275=
ENST00000567510.2:c.2395A>G (FANCA)	ENSP00000455969.1:n.2395A>G
ENST00000568369.6:c.3825A>G (FANCA)	ENSP00000456829.1:p.Ser1275=
ENST00000696274.1:n.3786A>G (FANCA)
ENST00000696275.1:c.*3060A>G (FANCA)	ENSP00000512517.1:n.*3060A>G
ENST00000696286.1:c.3825A>G (FANCA)	ENSP00000512523.1:p.Ser1275=
ENST00000696287.1:c.3696A>G (FANCA)	ENSP00000512524.1:p.Ser1232=
ENST00000696291.1:c.*3257A>G (FANCA)	ENSP00000512530.1:n.*3257A>G
ENST00000389301.8:c.3825A>G (FANCA) MANE Select	ENSP00000373952.3:p.Ser1275=
ENST00000443381.7:c.*2561T>C (ZNF276) MANE Select	ENSP00000415836.2:n.*2561T>C
ENST00000289816.9:c.*2561T>C (ZNF276)	ENSP00000289816.5:n.*2561T>C
ENST00000305699.15:n.1068A>G (FANCA)
ENST00000389301.7:c.3825A>G (FANCA)	ENSP00000373952.3:p.Ser1275=
ENST00000564475.5:c.155A>G (FANCA)
ENST00000564870.1:c.30-708A>G (FANCA)
ENST00000564969.5:n.110A>G (FANCA)
ENST00000567879.5:c.303A>G (FANCA)	ENSP00000457006.1:p.Ser101=
ENST00000568369.5:c.3825A>G (FANCA)	ENSP00000456829.1:p.Ser1275=
ENST00000568626.1:c.534A>G (FANCA)
NM_000135.2:c.3825A>G , LRG_495t1:c.3825A>G (FANCA)	NP_000126.2:p.Ser1275=
NM_001113525.1:c.*2561T>C (ZNF276)	NP_001106997.1:n.*2561T>C
NM_001286167.1:c.3825A>G (FANCA)	NP_001273096.1:p.Ser1275=
NM_152287.3:c.*2561T>C (ZNF276)	NP_689500.2:n.*2561T>C
XM_005256294.3:c.3825A>G (FANCA)	XP_005256351.1:p.Ser1275=
XM_011522945.1:c.3696A>G (FANCA)	XP_011521247.1:p.Ser1232=
XM_011522946.1:c.2802A>G (FANCA)	XP_011521248.1:p.Ser934=
XM_011522947.1:c.2802A>G (FANCA)	XP_011521249.1:p.Ser934=
XR_933244.1:n.3868A>G (FANCA)
XR_933245.1:n.3729A>G (FANCA)
XR_933246.1:n.3695A>G (FANCA)
NM_000135.3:c.3825A>G (FANCA)	NP_000126.2:p.Ser1275=
NM_001286167.2:c.3825A>G (FANCA)	NP_001273096.1:p.Ser1275=
XM_005256294.4:c.3825A>G (FANCA)	XP_005256351.1:p.Ser1275=
XM_011522945.2:c.3696A>G (FANCA)	XP_011521247.1:p.Ser1232=
XM_011522946.3:c.2802A>G (FANCA)	XP_011521248.1:p.Ser934=
XM_011522947.2:c.2802A>G (FANCA)	XP_011521249.1:p.Ser934=
XM_017023044.2:c.3696A>G (FANCA)	XP_016878533.1:p.Ser1232=
XM_024450189.1:c.2802A>G (FANCA)	XP_024305957.1:p.Ser934=
XR_001751866.1:n.3695A>G (FANCA)
XR_933244.2:n.3868A>G (FANCA)
XR_933245.2:n.3729A>G (FANCA)
NM_000135.4:c.3825A>G (FANCA) MANE Select	NP_000126.2:p.Ser1275=
NM_001113525.2:c.*2561T>C (ZNF276) MANE Select	NP_001106997.1:n.*2561T>C
NM_001286167.3:c.3825A>G (FANCA)	NP_001273096.1:p.Ser1275=
NM_152287.4:c.*2561T>C (ZNF276)	NP_689500.2:n.*2561T>C
NR_110122.2:n.4561T>C (ZNF276)
NR_110126.2:n.4444T>C (ZNF276)
NR_110129.2:n.4478T>C (ZNF276)
NR_110128.2:n.4384T>C (ZNF276)