Canonical Allele Identifier: CA8250858

Gene: FANCA ZNF276

Linked Data

• ClinVar Variation Id: 255264
• ClinVar RCV Id: RCV000242351 ; RCV001510313 ; RCV001537644 ; RCV001618365
• dbSNP Id: rs1061646
• ExAC: 16:89805977 G / A
• gnomAD v2: 16-89805977-G-A
• gnomAD v3: 16-89739569-G-A
• gnomAD v4: 16-89739569-G-A
• MyVariant Identifiers: chr16:g.89805977G>A (hg19) ; chr16:g.89739569G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89739569G>A , CM000678.2:g.89739569G>A	GRCh38
NC_000016.9:g.89805977G>A , CM000678.1:g.89805977G>A	GRCh37
NC_000016.8:g.88333478G>A	NCBI36
NG_011706.1:g.82089C>T , LRG_495:g.82089C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561667.2:c.*2508-16C>T (FANCA)	ENSP00000512522.1:n.*2508-16C>T
ENST00000564475.6:c.3935-16C>T (FANCA)	ENSP00000454977.2:n.3935-16C>T
ENST00000567510.2:c.2505-16C>T (FANCA)	ENSP00000455969.1:n.2505-16C>T
ENST00000568369.6:c.3935-16C>T (FANCA)	ENSP00000456829.1:n.3935-16C>T
ENST00000696274.1:n.3896-16C>T (FANCA)
ENST00000696275.1:c.*3170-16C>T (FANCA)	ENSP00000512517.1:n.*3170-16C>T
ENST00000696286.1:c.3935-280C>T (FANCA)	ENSP00000512523.1:n.3935-280C>T
ENST00000696287.1:c.3806-16C>T (FANCA)	ENSP00000512524.1:n.3806-16C>T
ENST00000696291.1:c.*3367-16C>T (FANCA)	ENSP00000512530.1:n.*3367-16C>T
ENST00000389301.8:c.3935-16C>T (FANCA) MANE Select	ENSP00000373952.3:n.3935-16C>T
ENST00000443381.7:c.*1323G>A (ZNF276) MANE Select	ENSP00000415836.2:n.*1323G>A
ENST00000289816.9:c.*1323G>A (ZNF276)	ENSP00000289816.5:n.*1323G>A
ENST00000389301.7:c.3935-16C>T (FANCA)	ENSP00000373952.3:n.3935-16C>T
ENST00000561722.5:c.86-16C>T (FANCA)	ENSP00000456608.1:n.86-16C>T
ENST00000562424.1:n.190C>T (FANCA)
ENST00000563983.5:n.3156G>A (ZNF276)
ENST00000564475.5:c.265-16C>T (FANCA)
ENST00000564870.1:c.136-16C>T (FANCA)
ENST00000564969.5:n.644C>T (FANCA)
ENST00000567879.5:c.413-303C>T (FANCA)	ENSP00000457006.1:n.413-303C>T
ENST00000568369.5:c.3935-16C>T (FANCA)	ENSP00000456829.1:n.3935-16C>T
ENST00000568626.1:c.644-16C>T (FANCA)
NM_000135.2:c.3935-16C>T , LRG_495t1:c.3935-16C>T (FANCA)	NP_000126.2:n.3935-16C>T
NM_001113525.1:c.*1323G>A (ZNF276)	NP_001106997.1:n.*1323G>A
NM_001286167.1:c.3935-16C>T (FANCA)	NP_001273096.1:n.3935-16C>T
NM_152287.3:c.*1323G>A (ZNF276)	NP_689500.2:n.*1323G>A
NR_110122.1:n.3340G>A (ZNF276)
NR_110126.1:n.3223G>A (ZNF276)
NR_110128.1:n.3146G>A (ZNF276)
NR_110129.1:n.3235G>A (ZNF276)
XM_005256294.3:c.3935-16C>T (FANCA)	XP_005256351.1:n.3935-16C>T
XM_011522945.1:c.3806-16C>T (FANCA)	XP_011521247.1:n.3806-16C>T
XM_011522946.1:c.2912-16C>T (FANCA)	XP_011521248.1:n.2912-16C>T
XM_011522947.1:c.2912-16C>T (FANCA)	XP_011521249.1:n.2912-16C>T
XR_933244.1:n.3978-280C>T (FANCA)
XR_933245.1:n.3839-16C>T (FANCA)
NM_000135.3:c.3935-16C>T (FANCA)	NP_000126.2:n.3935-16C>T
NM_001286167.2:c.3935-16C>T (FANCA)	NP_001273096.1:n.3935-16C>T
XM_005256294.4:c.3935-16C>T (FANCA)	XP_005256351.1:n.3935-16C>T
XM_011522945.2:c.3806-16C>T (FANCA)	XP_011521247.1:n.3806-16C>T
XM_011522946.3:c.2912-16C>T (FANCA)	XP_011521248.1:n.2912-16C>T
XM_011522947.2:c.2912-16C>T (FANCA)	XP_011521249.1:n.2912-16C>T
XM_017023044.2:c.3806-16C>T (FANCA)	XP_016878533.1:n.3806-16C>T
XM_017023890.1:c.*1323G>A (ZNF276)	XP_016879379.1:n.*1323G>A
XM_024450189.1:c.2912-16C>T (FANCA)	XP_024305957.1:n.2912-16C>T
XR_001751866.1:n.3805-16C>T (FANCA)
XR_933244.2:n.3978-280C>T (FANCA)
XR_933245.2:n.3839-16C>T (FANCA)
XR_933484.2:n.3334G>A (ZNF276)
NM_000135.4:c.3935-16C>T (FANCA) MANE Select	NP_000126.2:n.3935-16C>T
NM_001113525.2:c.*1323G>A (ZNF276) MANE Select	NP_001106997.1:n.*1323G>A
NM_001286167.3:c.3935-16C>T (FANCA)	NP_001273096.1:n.3935-16C>T
NM_152287.4:c.*1323G>A (ZNF276)	NP_689500.2:n.*1323G>A
NR_110122.2:n.3323G>A (ZNF276)
NR_110126.2:n.3206G>A (ZNF276)
NR_110129.2:n.3240G>A (ZNF276)
NR_110128.2:n.3146G>A (ZNF276)