Canonical Allele Identifier: CA497379254

Gene: FANCA ZNF276

Linked Data

• ClinVar Variation Id: 1151594
• ClinVar RCV Id: RCV001492582
• dbSNP Id: rs1366841040
• gnomAD v4: 16-89739142-G-C
• MyVariant Identifiers: chr16:g.89805550G>C (hg19) ; chr16:g.89739142G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89739142G>C , CM000678.2:g.89739142G>C	GRCh38
NC_000016.9:g.89805550G>C , CM000678.1:g.89805550G>C	GRCh37
NC_000016.8:g.88333051G>C	NCBI36
NG_011706.1:g.82516C>G , LRG_495:g.82516C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2731C>G (FANCA)	ENSP00000512522.1:n.*2731C>G
ENST00000564475.6:c.4158C>G (FANCA)	ENSP00000454977.2:p.Leu1386=
ENST00000567510.2:c.2728C>G (FANCA)	ENSP00000455969.1:n.2728C>G
ENST00000568369.6:c.4158C>G (FANCA)	ENSP00000456829.1:p.Leu1386=
ENST00000696274.1:n.4119C>G (FANCA)
ENST00000696275.1:c.*3393C>G (FANCA)	ENSP00000512517.1:n.*3393C>G
ENST00000696286.1:c.*71C>G (FANCA)	ENSP00000512523.1:n.*71C>G
ENST00000696287.1:c.4029C>G (FANCA)	ENSP00000512524.1:p.Leu1343=
ENST00000696291.1:c.*3590C>G (FANCA)	ENSP00000512530.1:n.*3590C>G
ENST00000389301.8:c.4158C>G (FANCA) MANE Select	ENSP00000373952.3:p.Leu1386=
ENST00000443381.7:c.*896G>C (ZNF276) MANE Select	ENSP00000415836.2:n.*896G>C
ENST00000289816.9:c.*896G>C (ZNF276)	ENSP00000289816.5:n.*896G>C
ENST00000389301.7:c.4158C>G (FANCA)	ENSP00000373952.3:p.Leu1386=
ENST00000561722.5:c.309C>G (FANCA)	ENSP00000456608.1:p.Leu103=
ENST00000562424.1:n.429C>G (FANCA)
ENST00000563983.5:n.2729G>C (ZNF276)
ENST00000564475.5:c.488C>G (FANCA)
ENST00000564870.1:c.359C>G (FANCA)
ENST00000567879.5:c.537C>G (FANCA)	ENSP00000457006.1:p.Leu179=
ENST00000568369.5:c.4158C>G (FANCA)	ENSP00000456829.1:p.Leu1386=
NM_000135.2:c.4158C>G , LRG_495t1:c.4158C>G (FANCA)	NP_000126.2:p.Leu1386=
NM_001113525.1:c.*896G>C (ZNF276)	NP_001106997.1:n.*896G>C
NM_001286167.1:c.4158C>G (FANCA)	NP_001273096.1:p.Leu1386=
NM_152287.3:c.*896G>C (ZNF276)	NP_689500.2:n.*896G>C
NR_110122.1:n.2913G>C (ZNF276)
NR_110126.1:n.2796G>C (ZNF276)
NR_110128.1:n.2719G>C (ZNF276)
NR_110129.1:n.2808G>C (ZNF276)
XM_005256294.3:c.4158C>G (FANCA)	XP_005256351.1:p.Leu1386=
XM_011522945.1:c.4029C>G (FANCA)	XP_011521247.1:p.Leu1343=
XM_011522946.1:c.3135C>G (FANCA)	XP_011521248.1:p.Leu1045=
XM_011522947.1:c.3135C>G (FANCA)	XP_011521249.1:p.Leu1045=
XR_933244.1:n.4125C>G (FANCA)
XR_933245.1:n.4062C>G (FANCA)
NM_000135.3:c.4158C>G (FANCA)	NP_000126.2:p.Leu1386=
NM_001286167.2:c.4158C>G (FANCA)	NP_001273096.1:p.Leu1386=
XM_005256294.4:c.4158C>G (FANCA)	XP_005256351.1:p.Leu1386=
XM_011522945.2:c.4029C>G (FANCA)	XP_011521247.1:p.Leu1343=
XM_011522946.3:c.3135C>G (FANCA)	XP_011521248.1:p.Leu1045=
XM_011522947.2:c.3135C>G (FANCA)	XP_011521249.1:p.Leu1045=
XM_017023044.2:c.4029C>G (FANCA)	XP_016878533.1:p.Leu1343=
XM_017023890.1:c.*896G>C (ZNF276)	XP_016879379.1:n.*896G>C
XM_024450189.1:c.3135C>G (FANCA)	XP_024305957.1:p.Leu1045=
XR_933244.2:n.4125C>G (FANCA)
XR_933245.2:n.4062C>G (FANCA)
XR_933484.2:n.2907G>C (ZNF276)
NM_000135.4:c.4158C>G (FANCA) MANE Select	NP_000126.2:p.Leu1386=
NM_001113525.2:c.*896G>C (ZNF276) MANE Select	NP_001106997.1:n.*896G>C
NM_001286167.3:c.4158C>G (FANCA)	NP_001273096.1:p.Leu1386=
NM_152287.4:c.*896G>C (ZNF276)	NP_689500.2:n.*896G>C
NR_110122.2:n.2896G>C (ZNF276)
NR_110126.2:n.2779G>C (ZNF276)
NR_110129.2:n.2813G>C (ZNF276)
NR_110128.2:n.2719G>C (ZNF276)