Canonical Allele Identifier: CA397483571

Gene: FANCA ZNF276

Linked Data

• dbSNP Id: rs566927763
• gnomAD v2: 16-89805349-G-T
• MyVariant Identifiers: chr16:g.89805349G>T (hg19) ; chr16:g.89738941G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738941G>T , CM000678.2:g.89738941G>T	GRCh38
NC_000016.9:g.89805349G>T , CM000678.1:g.89805349G>T	GRCh37
NC_000016.8:g.88332850G>T	NCBI36
NG_011706.1:g.82717C>A , LRG_495:g.82717C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2774C>A (FANCA)	ENSP00000512522.1:n.*2774C>A
ENST00000564475.6:c.4205C>A (FANCA)	ENSP00000454977.2:p.Ser1402Tyr
ENST00000567510.2:c.2775C>A (FANCA)	ENSP00000455969.1:n.2775C>A
ENST00000568369.6:c.4205C>A (FANCA)	ENSP00000456829.1:p.Ser1402Tyr
ENST00000696274.1:n.4162C>A (FANCA)
ENST00000696275.1:c.*3440C>A (FANCA)	ENSP00000512517.1:n.*3440C>A
ENST00000696286.1:c.*114C>A (FANCA)	ENSP00000512523.1:n.*114C>A
ENST00000696287.1:c.4076C>A (FANCA)	ENSP00000512524.1:p.Ser1359Tyr
ENST00000696291.1:c.*3633C>A (FANCA)	ENSP00000512530.1:n.*3633C>A
ENST00000389301.8:c.4201C>A (FANCA) MANE Select	ENSP00000373952.3:p.Leu1401Ile
ENST00000443381.7:c.*695G>T (ZNF276) MANE Select	ENSP00000415836.2:n.*695G>T
ENST00000289816.9:c.*695G>T (ZNF276)	ENSP00000289816.5:n.*695G>T
ENST00000389301.7:c.4201C>A (FANCA)	ENSP00000373952.3:p.Leu1401Ile
ENST00000561722.5:c.436-15C>A (FANCA)	ENSP00000456608.1:n.436-15C>A
ENST00000562424.1:n.472C>A (FANCA)
ENST00000563983.5:n.2528G>T (ZNF276)
ENST00000564475.5:c.535C>A (FANCA)
ENST00000564870.1:c.402C>A (FANCA)
ENST00000567879.5:c.575C>A (FANCA)	ENSP00000457006.1:p.Ser192Tyr
ENST00000568369.5:c.4205C>A (FANCA)	ENSP00000456829.1:p.Ser1402Tyr
NM_000135.2:c.4201C>A , LRG_495t1:c.4201C>A (FANCA)	NP_000126.2:p.Leu1401Ile
NM_001113525.1:c.*695G>T (ZNF276)	NP_001106997.1:n.*695G>T
NM_001286167.1:c.4205C>A (FANCA)	NP_001273096.1:p.Ser1402Tyr
NM_152287.3:c.*695G>T (ZNF276)	NP_689500.2:n.*695G>T
NR_110122.1:n.2712G>T (ZNF276)
NR_110126.1:n.2595G>T (ZNF276)
NR_110128.1:n.2518G>T (ZNF276)
NR_110129.1:n.2607G>T (ZNF276)
XM_005256294.3:c.4205C>A (FANCA)	XP_005256351.1:p.Ser1402Tyr
XM_011522945.1:c.4076C>A (FANCA)	XP_011521247.1:p.Ser1359Tyr
XM_011522946.1:c.3182C>A (FANCA)	XP_011521248.1:p.Ser1061Tyr
XM_011522947.1:c.3182C>A (FANCA)	XP_011521249.1:p.Ser1061Tyr
XR_933244.1:n.4168C>A (FANCA)
XR_933245.1:n.4105C>A (FANCA)
NM_000135.3:c.4201C>A (FANCA)	NP_000126.2:p.Leu1401Ile
NM_001286167.2:c.4205C>A (FANCA)	NP_001273096.1:p.Ser1402Tyr
XM_005256294.4:c.4205C>A (FANCA)	XP_005256351.1:p.Ser1402Tyr
XM_011522945.2:c.4076C>A (FANCA)	XP_011521247.1:p.Ser1359Tyr
XM_011522946.3:c.3182C>A (FANCA)	XP_011521248.1:p.Ser1061Tyr
XM_011522947.2:c.3182C>A (FANCA)	XP_011521249.1:p.Ser1061Tyr
XM_017023044.2:c.4072C>A (FANCA)	XP_016878533.1:p.Leu1358Ile
XM_017023890.1:c.*695G>T (ZNF276)	XP_016879379.1:n.*695G>T
XM_024450189.1:c.3182C>A (FANCA)	XP_024305957.1:p.Ser1061Tyr
XR_933244.2:n.4168C>A (FANCA)
XR_933245.2:n.4105C>A (FANCA)
XR_933484.2:n.2706G>T (ZNF276)
NM_000135.4:c.4201C>A (FANCA) MANE Select	NP_000126.2:p.Leu1401Ile
NM_001113525.2:c.*695G>T (ZNF276) MANE Select	NP_001106997.1:n.*695G>T
NM_001286167.3:c.4205C>A (FANCA)	NP_001273096.1:p.Ser1402Tyr
NM_152287.4:c.*695G>T (ZNF276)	NP_689500.2:n.*695G>T
NR_110122.2:n.2695G>T (ZNF276)
NR_110126.2:n.2578G>T (ZNF276)
NR_110129.2:n.2612G>T (ZNF276)
NR_110128.2:n.2518G>T (ZNF276)