Canonical Allele Identifier: CA397484121

Gene: FANCA ZNF276

Linked Data

• gnomAD v4: 16-89739063-C-A
• MyVariant Identifiers: chr16:g.89805471C>A (hg19) ; chr16:g.89739063C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89739063C>A , CM000678.2:g.89739063C>A	GRCh38
NC_000016.9:g.89805471C>A , CM000678.1:g.89805471C>A	GRCh37
NC_000016.8:g.88332972C>A	NCBI36
NG_011706.1:g.82595G>T , LRG_495:g.82595G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2740+70G>T (FANCA)	ENSP00000512522.1:n.*2740+70G>T
ENST00000564475.6:c.4171+66G>T (FANCA)	ENSP00000454977.2:n.4171+66G>T
ENST00000567510.2:c.2741+66G>T (FANCA)	ENSP00000455969.1:n.2741+66G>T
ENST00000568369.6:c.4171+66G>T (FANCA)	ENSP00000456829.1:n.4171+66G>T
ENST00000696274.1:n.4128+70G>T (FANCA)
ENST00000696275.1:c.*3406+66G>T (FANCA)	ENSP00000512517.1:n.*3406+66G>T
ENST00000696286.1:c.*80+70G>T (FANCA)	ENSP00000512523.1:n.*80+70G>T
ENST00000696287.1:c.4042+66G>T (FANCA)	ENSP00000512524.1:n.4042+66G>T
ENST00000696291.1:c.*3599+70G>T (FANCA)	ENSP00000512530.1:n.*3599+70G>T
ENST00000389301.8:c.4167+70G>T (FANCA) MANE Select	ENSP00000373952.3:n.4167+70G>T
ENST00000443381.7:c.*817C>A (ZNF276) MANE Select	ENSP00000415836.2:n.*817C>A
ENST00000289816.9:c.*817C>A (ZNF276)	ENSP00000289816.5:n.*817C>A
ENST00000389301.7:c.4167+70G>T (FANCA)	ENSP00000373952.3:n.4167+70G>T
ENST00000561722.5:c.388G>T (FANCA)	ENSP00000456608.1:p.Val130Phe
ENST00000562424.1:n.438+70G>T (FANCA)
ENST00000563983.5:n.2650C>A (ZNF276)
ENST00000564475.5:c.501+66G>T (FANCA)
ENST00000564870.1:c.368+70G>T (FANCA)
ENST00000567879.5:c.541+75G>T (FANCA)	ENSP00000457006.1:n.541+75G>T
ENST00000568369.5:c.4171+66G>T (FANCA)	ENSP00000456829.1:n.4171+66G>T
NM_000135.2:c.4167+70G>T , LRG_495t1:c.4167+70G>T (FANCA)	NP_000126.2:n.4167+70G>T
NM_001113525.1:c.*817C>A (ZNF276)	NP_001106997.1:n.*817C>A
NM_001286167.1:c.4171+66G>T (FANCA)	NP_001273096.1:n.4171+66G>T
NM_152287.3:c.*817C>A (ZNF276)	NP_689500.2:n.*817C>A
NR_110122.1:n.2834C>A (ZNF276)
NR_110126.1:n.2717C>A (ZNF276)
NR_110128.1:n.2640C>A (ZNF276)
NR_110129.1:n.2729C>A (ZNF276)
XM_005256294.3:c.4171+66G>T (FANCA)	XP_005256351.1:n.4171+66G>T
XM_011522945.1:c.4042+66G>T (FANCA)	XP_011521247.1:n.4042+66G>T
XM_011522946.1:c.3148+66G>T (FANCA)	XP_011521248.1:n.3148+66G>T
XM_011522947.1:c.3148+66G>T (FANCA)	XP_011521249.1:n.3148+66G>T
XR_933244.1:n.4134+70G>T (FANCA)
XR_933245.1:n.4071+70G>T (FANCA)
NM_000135.3:c.4167+70G>T (FANCA)	NP_000126.2:n.4167+70G>T
NM_001286167.2:c.4171+66G>T (FANCA)	NP_001273096.1:n.4171+66G>T
XM_005256294.4:c.4171+66G>T (FANCA)	XP_005256351.1:n.4171+66G>T
XM_011522945.2:c.4042+66G>T (FANCA)	XP_011521247.1:n.4042+66G>T
XM_011522946.3:c.3148+66G>T (FANCA)	XP_011521248.1:n.3148+66G>T
XM_011522947.2:c.3148+66G>T (FANCA)	XP_011521249.1:n.3148+66G>T
XM_017023044.2:c.4038+70G>T (FANCA)	XP_016878533.1:n.4038+70G>T
XM_017023890.1:c.*817C>A (ZNF276)	XP_016879379.1:n.*817C>A
XM_024450189.1:c.3148+66G>T (FANCA)	XP_024305957.1:n.3148+66G>T
XR_933244.2:n.4134+70G>T (FANCA)
XR_933245.2:n.4071+70G>T (FANCA)
XR_933484.2:n.2828C>A (ZNF276)
NM_000135.4:c.4167+70G>T (FANCA) MANE Select	NP_000126.2:n.4167+70G>T
NM_001113525.2:c.*817C>A (ZNF276) MANE Select	NP_001106997.1:n.*817C>A
NM_001286167.3:c.4171+66G>T (FANCA)	NP_001273096.1:n.4171+66G>T
NM_152287.4:c.*817C>A (ZNF276)	NP_689500.2:n.*817C>A
NR_110122.2:n.2817C>A (ZNF276)
NR_110126.2:n.2700C>A (ZNF276)
NR_110129.2:n.2734C>A (ZNF276)
NR_110128.2:n.2640C>A (ZNF276)