Canonical Allele Identifier: CA8250737

Gene: FANCA ZNF276

Linked Data

• dbSNP Id: rs781393563
• ExAC: 16:89805489 G / C
• gnomAD v4: 16-89739081-G-C
• MyVariant Identifiers: chr16:g.89805489G>C (hg19) ; chr16:g.89739081G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89739081G>C , CM000678.2:g.89739081G>C	GRCh38
NC_000016.9:g.89805489G>C , CM000678.1:g.89805489G>C	GRCh37
NC_000016.8:g.88332990G>C	NCBI36
NG_011706.1:g.82577C>G , LRG_495:g.82577C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2740+52C>G (FANCA)	ENSP00000512522.1:n.*2740+52C>G
ENST00000564475.6:c.4171+48C>G (FANCA)	ENSP00000454977.2:n.4171+48C>G
ENST00000567510.2:c.2741+48C>G (FANCA)	ENSP00000455969.1:n.2741+48C>G
ENST00000568369.6:c.4171+48C>G (FANCA)	ENSP00000456829.1:n.4171+48C>G
ENST00000696274.1:n.4128+52C>G (FANCA)
ENST00000696275.1:c.*3406+48C>G (FANCA)	ENSP00000512517.1:n.*3406+48C>G
ENST00000696286.1:c.*80+52C>G (FANCA)	ENSP00000512523.1:n.*80+52C>G
ENST00000696287.1:c.4042+48C>G (FANCA)	ENSP00000512524.1:n.4042+48C>G
ENST00000696291.1:c.*3599+52C>G (FANCA)	ENSP00000512530.1:n.*3599+52C>G
ENST00000389301.8:c.4167+52C>G (FANCA) MANE Select	ENSP00000373952.3:n.4167+52C>G
ENST00000443381.7:c.*835G>C (ZNF276) MANE Select	ENSP00000415836.2:n.*835G>C
ENST00000289816.9:c.*835G>C (ZNF276)	ENSP00000289816.5:n.*835G>C
ENST00000389301.7:c.4167+52C>G (FANCA)	ENSP00000373952.3:n.4167+52C>G
ENST00000561722.5:c.370C>G (FANCA)	ENSP00000456608.1:p.Leu124Val
ENST00000562424.1:n.438+52C>G (FANCA)
ENST00000563983.5:n.2668G>C (ZNF276)
ENST00000564475.5:c.501+48C>G (FANCA)
ENST00000564870.1:c.368+52C>G (FANCA)
ENST00000567879.5:c.541+57C>G (FANCA)	ENSP00000457006.1:n.541+57C>G
ENST00000568369.5:c.4171+48C>G (FANCA)	ENSP00000456829.1:n.4171+48C>G
NM_000135.2:c.4167+52C>G , LRG_495t1:c.4167+52C>G (FANCA)	NP_000126.2:n.4167+52C>G
NM_001113525.1:c.*835G>C (ZNF276)	NP_001106997.1:n.*835G>C
NM_001286167.1:c.4171+48C>G (FANCA)	NP_001273096.1:n.4171+48C>G
NM_152287.3:c.*835G>C (ZNF276)	NP_689500.2:n.*835G>C
NR_110122.1:n.2852G>C (ZNF276)
NR_110126.1:n.2735G>C (ZNF276)
NR_110128.1:n.2658G>C (ZNF276)
NR_110129.1:n.2747G>C (ZNF276)
XM_005256294.3:c.4171+48C>G (FANCA)	XP_005256351.1:n.4171+48C>G
XM_011522945.1:c.4042+48C>G (FANCA)	XP_011521247.1:n.4042+48C>G
XM_011522946.1:c.3148+48C>G (FANCA)	XP_011521248.1:n.3148+48C>G
XM_011522947.1:c.3148+48C>G (FANCA)	XP_011521249.1:n.3148+48C>G
XR_933244.1:n.4134+52C>G (FANCA)
XR_933245.1:n.4071+52C>G (FANCA)
NM_000135.3:c.4167+52C>G (FANCA)	NP_000126.2:n.4167+52C>G
NM_001286167.2:c.4171+48C>G (FANCA)	NP_001273096.1:n.4171+48C>G
XM_005256294.4:c.4171+48C>G (FANCA)	XP_005256351.1:n.4171+48C>G
XM_011522945.2:c.4042+48C>G (FANCA)	XP_011521247.1:n.4042+48C>G
XM_011522946.3:c.3148+48C>G (FANCA)	XP_011521248.1:n.3148+48C>G
XM_011522947.2:c.3148+48C>G (FANCA)	XP_011521249.1:n.3148+48C>G
XM_017023044.2:c.4038+52C>G (FANCA)	XP_016878533.1:n.4038+52C>G
XM_017023890.1:c.*835G>C (ZNF276)	XP_016879379.1:n.*835G>C
XM_024450189.1:c.3148+48C>G (FANCA)	XP_024305957.1:n.3148+48C>G
XR_933244.2:n.4134+52C>G (FANCA)
XR_933245.2:n.4071+52C>G (FANCA)
XR_933484.2:n.2846G>C (ZNF276)
NM_000135.4:c.4167+52C>G (FANCA) MANE Select	NP_000126.2:n.4167+52C>G
NM_001113525.2:c.*835G>C (ZNF276) MANE Select	NP_001106997.1:n.*835G>C
NM_001286167.3:c.4171+48C>G (FANCA)	NP_001273096.1:n.4171+48C>G
NM_152287.4:c.*835G>C (ZNF276)	NP_689500.2:n.*835G>C
NR_110122.2:n.2835G>C (ZNF276)
NR_110126.2:n.2718G>C (ZNF276)
NR_110129.2:n.2752G>C (ZNF276)
NR_110128.2:n.2658G>C (ZNF276)