Canonical Allele Identifier: CA8250771

Gene: FANCA ZNF276

Linked Data

• ClinVar Variation Id: 1655237
• ClinVar RCV Id: RCV002156664
• dbSNP Id: rs770551622
• ExAC: 16:89805553 C / T
• gnomAD v2: 16-89805553-C-T
• gnomAD v4: 16-89739145-C-T
• MyVariant Identifiers: chr16:g.89805553C>T (hg19) ; chr16:g.89739145C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89739145C>T , CM000678.2:g.89739145C>T	GRCh38
NC_000016.9:g.89805553C>T , CM000678.1:g.89805553C>T	GRCh37
NC_000016.8:g.88333054C>T	NCBI36
NG_011706.1:g.82513G>A , LRG_495:g.82513G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2728G>A (FANCA)	ENSP00000512522.1:n.*2728G>A
ENST00000564475.6:c.4155G>A (FANCA)	ENSP00000454977.2:p.Glu1385=
ENST00000567510.2:c.2725G>A (FANCA)	ENSP00000455969.1:n.2725G>A
ENST00000568369.6:c.4155G>A (FANCA)	ENSP00000456829.1:p.Glu1385=
ENST00000696274.1:n.4116G>A (FANCA)
ENST00000696275.1:c.*3390G>A (FANCA)	ENSP00000512517.1:n.*3390G>A
ENST00000696286.1:c.*68G>A (FANCA)	ENSP00000512523.1:n.*68G>A
ENST00000696287.1:c.4026G>A (FANCA)	ENSP00000512524.1:p.Glu1342=
ENST00000696291.1:c.*3587G>A (FANCA)	ENSP00000512530.1:n.*3587G>A
ENST00000389301.8:c.4155G>A (FANCA) MANE Select	ENSP00000373952.3:p.Glu1385=
ENST00000443381.7:c.*899C>T (ZNF276) MANE Select	ENSP00000415836.2:n.*899C>T
ENST00000289816.9:c.*899C>T (ZNF276)	ENSP00000289816.5:n.*899C>T
ENST00000389301.7:c.4155G>A (FANCA)	ENSP00000373952.3:p.Glu1385=
ENST00000561722.5:c.306G>A (FANCA)	ENSP00000456608.1:p.Glu102=
ENST00000562424.1:n.426G>A (FANCA)
ENST00000563983.5:n.2732C>T (ZNF276)
ENST00000564475.5:c.485G>A (FANCA)
ENST00000564870.1:c.356G>A (FANCA)
ENST00000567879.5:c.534G>A (FANCA)	ENSP00000457006.1:p.Glu178=
ENST00000568369.5:c.4155G>A (FANCA)	ENSP00000456829.1:p.Glu1385=
NM_000135.2:c.4155G>A , LRG_495t1:c.4155G>A (FANCA)	NP_000126.2:p.Glu1385=
NM_001113525.1:c.*899C>T (ZNF276)	NP_001106997.1:n.*899C>T
NM_001286167.1:c.4155G>A (FANCA)	NP_001273096.1:p.Glu1385=
NM_152287.3:c.*899C>T (ZNF276)	NP_689500.2:n.*899C>T
NR_110122.1:n.2916C>T (ZNF276)
NR_110126.1:n.2799C>T (ZNF276)
NR_110128.1:n.2722C>T (ZNF276)
NR_110129.1:n.2811C>T (ZNF276)
XM_005256294.3:c.4155G>A (FANCA)	XP_005256351.1:p.Glu1385=
XM_011522945.1:c.4026G>A (FANCA)	XP_011521247.1:p.Glu1342=
XM_011522946.1:c.3132G>A (FANCA)	XP_011521248.1:p.Glu1044=
XM_011522947.1:c.3132G>A (FANCA)	XP_011521249.1:p.Glu1044=
XR_933244.1:n.4122G>A (FANCA)
XR_933245.1:n.4059G>A (FANCA)
NM_000135.3:c.4155G>A (FANCA)	NP_000126.2:p.Glu1385=
NM_001286167.2:c.4155G>A (FANCA)	NP_001273096.1:p.Glu1385=
XM_005256294.4:c.4155G>A (FANCA)	XP_005256351.1:p.Glu1385=
XM_011522945.2:c.4026G>A (FANCA)	XP_011521247.1:p.Glu1342=
XM_011522946.3:c.3132G>A (FANCA)	XP_011521248.1:p.Glu1044=
XM_011522947.2:c.3132G>A (FANCA)	XP_011521249.1:p.Glu1044=
XM_017023044.2:c.4026G>A (FANCA)	XP_016878533.1:p.Glu1342=
XM_017023890.1:c.*899C>T (ZNF276)	XP_016879379.1:n.*899C>T
XM_024450189.1:c.3132G>A (FANCA)	XP_024305957.1:p.Glu1044=
XR_933244.2:n.4122G>A (FANCA)
XR_933245.2:n.4059G>A (FANCA)
XR_933484.2:n.2910C>T (ZNF276)
NM_000135.4:c.4155G>A (FANCA) MANE Select	NP_000126.2:p.Glu1385=
NM_001113525.2:c.*899C>T (ZNF276) MANE Select	NP_001106997.1:n.*899C>T
NM_001286167.3:c.4155G>A (FANCA)	NP_001273096.1:p.Glu1385=
NM_152287.4:c.*899C>T (ZNF276)	NP_689500.2:n.*899C>T
NR_110122.2:n.2899C>T (ZNF276)
NR_110126.2:n.2782C>T (ZNF276)
NR_110129.2:n.2816C>T (ZNF276)
NR_110128.2:n.2722C>T (ZNF276)