Canonical Allele Identifier: CA497194090

Gene: FANCA ZNF276

Linked Data

• ClinVar Variation Id: 2049925
• ClinVar RCV Id: RCV002914265
• dbSNP Id: rs1274557789
• gnomAD v2: 16-89805930-C-T
• gnomAD v4: 16-89739522-C-T
• MyVariant Identifiers: chr16:g.89805930C>T (hg19) ; chr16:g.89739522C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89739522C>T , CM000678.2:g.89739522C>T	GRCh38
NC_000016.9:g.89805930C>T , CM000678.1:g.89805930C>T	GRCh37
NC_000016.8:g.88333431C>T	NCBI36
NG_011706.1:g.82136G>A , LRG_495:g.82136G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561667.2:c.*2539G>A (FANCA)	ENSP00000512522.1:n.*2539G>A
ENST00000564475.6:c.3966G>A (FANCA)	ENSP00000454977.2:p.Val1322=
ENST00000567510.2:c.2536G>A (FANCA)	ENSP00000455969.1:n.2536G>A
ENST00000568369.6:c.3966G>A (FANCA)	ENSP00000456829.1:p.Val1322=
ENST00000696274.1:n.3927G>A (FANCA)
ENST00000696275.1:c.*3201G>A (FANCA)	ENSP00000512517.1:n.*3201G>A
ENST00000696286.1:c.3935-233G>A (FANCA)	ENSP00000512523.1:n.3935-233G>A
ENST00000696287.1:c.3837G>A (FANCA)	ENSP00000512524.1:p.Val1279=
ENST00000696291.1:c.*3398G>A (FANCA)	ENSP00000512530.1:n.*3398G>A
ENST00000389301.8:c.3966G>A (FANCA) MANE Select	ENSP00000373952.3:p.Val1322=
ENST00000443381.7:c.*1276C>T (ZNF276) MANE Select	ENSP00000415836.2:n.*1276C>T
ENST00000289816.9:c.*1276C>T (ZNF276)	ENSP00000289816.5:n.*1276C>T
ENST00000389301.7:c.3966G>A (FANCA)	ENSP00000373952.3:p.Val1322=
ENST00000561722.5:c.117G>A (FANCA)	ENSP00000456608.1:p.Val39=
ENST00000562424.1:n.237G>A (FANCA)
ENST00000563983.5:n.3109C>T (ZNF276)
ENST00000564475.5:c.296G>A (FANCA)
ENST00000564870.1:c.167G>A (FANCA)
ENST00000564969.5:n.691G>A (FANCA)
ENST00000567879.5:c.413-256G>A (FANCA)	ENSP00000457006.1:n.413-256G>A
ENST00000568369.5:c.3966G>A (FANCA)	ENSP00000456829.1:p.Val1322=
ENST00000568626.1:c.675G>A (FANCA)
NM_000135.2:c.3966G>A , LRG_495t1:c.3966G>A (FANCA)	NP_000126.2:p.Val1322=
NM_001113525.1:c.*1276C>T (ZNF276)	NP_001106997.1:n.*1276C>T
NM_001286167.1:c.3966G>A (FANCA)	NP_001273096.1:p.Val1322=
NM_152287.3:c.*1276C>T (ZNF276)	NP_689500.2:n.*1276C>T
NR_110122.1:n.3293C>T (ZNF276)
NR_110126.1:n.3176C>T (ZNF276)
NR_110128.1:n.3099C>T (ZNF276)
NR_110129.1:n.3188C>T (ZNF276)
XM_005256294.3:c.3966G>A (FANCA)	XP_005256351.1:p.Val1322=
XM_011522945.1:c.3837G>A (FANCA)	XP_011521247.1:p.Val1279=
XM_011522946.1:c.2943G>A (FANCA)	XP_011521248.1:p.Val981=
XM_011522947.1:c.2943G>A (FANCA)	XP_011521249.1:p.Val981=
XR_933244.1:n.3978-233G>A (FANCA)
XR_933245.1:n.3870G>A (FANCA)
NM_000135.3:c.3966G>A (FANCA)	NP_000126.2:p.Val1322=
NM_001286167.2:c.3966G>A (FANCA)	NP_001273096.1:p.Val1322=
XM_005256294.4:c.3966G>A (FANCA)	XP_005256351.1:p.Val1322=
XM_011522945.2:c.3837G>A (FANCA)	XP_011521247.1:p.Val1279=
XM_011522946.3:c.2943G>A (FANCA)	XP_011521248.1:p.Val981=
XM_011522947.2:c.2943G>A (FANCA)	XP_011521249.1:p.Val981=
XM_017023044.2:c.3837G>A (FANCA)	XP_016878533.1:p.Val1279=
XM_017023890.1:c.*1276C>T (ZNF276)	XP_016879379.1:n.*1276C>T
XM_024450189.1:c.2943G>A (FANCA)	XP_024305957.1:p.Val981=
XR_001751866.1:n.3836G>A (FANCA)
XR_933244.2:n.3978-233G>A (FANCA)
XR_933245.2:n.3870G>A (FANCA)
XR_933484.2:n.3287C>T (ZNF276)
NM_000135.4:c.3966G>A (FANCA) MANE Select	NP_000126.2:p.Val1322=
NM_001113525.2:c.*1276C>T (ZNF276) MANE Select	NP_001106997.1:n.*1276C>T
NM_001286167.3:c.3966G>A (FANCA)	NP_001273096.1:p.Val1322=
NM_152287.4:c.*1276C>T (ZNF276)	NP_689500.2:n.*1276C>T
NR_110122.2:n.3276C>T (ZNF276)
NR_110126.2:n.3159C>T (ZNF276)
NR_110129.2:n.3193C>T (ZNF276)
NR_110128.2:n.3099C>T (ZNF276)