Canonical Allele Identifier: CA397483595

Gene: FANCA ZNF276

Linked Data

• gnomAD v4: 16-89738944-G-C
• MyVariant Identifiers: chr16:g.89805352G>C (hg19) ; chr16:g.89738944G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89738944G>C , CM000678.2:g.89738944G>C	GRCh38
NC_000016.9:g.89805352G>C , CM000678.1:g.89805352G>C	GRCh37
NC_000016.8:g.88332853G>C	NCBI36
NG_011706.1:g.82714C>G , LRG_495:g.82714C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*2771C>G (FANCA)	ENSP00000512522.1:n.*2771C>G
ENST00000564475.6:c.4202C>G (FANCA)	ENSP00000454977.2:p.Ser1401Trp
ENST00000567510.2:c.2772C>G (FANCA)	ENSP00000455969.1:n.2772C>G
ENST00000568369.6:c.4202C>G (FANCA)	ENSP00000456829.1:p.Ser1401Trp
ENST00000696274.1:n.4159C>G (FANCA)
ENST00000696275.1:c.*3437C>G (FANCA)	ENSP00000512517.1:n.*3437C>G
ENST00000696286.1:c.*111C>G (FANCA)	ENSP00000512523.1:n.*111C>G
ENST00000696287.1:c.4073C>G (FANCA)	ENSP00000512524.1:p.Ser1358Trp
ENST00000696291.1:c.*3630C>G (FANCA)	ENSP00000512530.1:n.*3630C>G
ENST00000389301.8:c.4198C>G (FANCA) MANE Select	ENSP00000373952.3:p.Arg1400Gly
ENST00000443381.7:c.*698G>C (ZNF276) MANE Select	ENSP00000415836.2:n.*698G>C
ENST00000289816.9:c.*698G>C (ZNF276)	ENSP00000289816.5:n.*698G>C
ENST00000389301.7:c.4198C>G (FANCA)	ENSP00000373952.3:p.Arg1400Gly
ENST00000561722.5:c.436-18C>G (FANCA)	ENSP00000456608.1:n.436-18C>G
ENST00000562424.1:n.469C>G (FANCA)
ENST00000563983.5:n.2531G>C (ZNF276)
ENST00000564475.5:c.532C>G (FANCA)
ENST00000564870.1:c.399C>G (FANCA)
ENST00000567879.5:c.572C>G (FANCA)	ENSP00000457006.1:p.Ser191Trp
ENST00000568369.5:c.4202C>G (FANCA)	ENSP00000456829.1:p.Ser1401Trp
NM_000135.2:c.4198C>G , LRG_495t1:c.4198C>G (FANCA)	NP_000126.2:p.Arg1400Gly
NM_001113525.1:c.*698G>C (ZNF276)	NP_001106997.1:n.*698G>C
NM_001286167.1:c.4202C>G (FANCA)	NP_001273096.1:p.Ser1401Trp
NM_152287.3:c.*698G>C (ZNF276)	NP_689500.2:n.*698G>C
NR_110122.1:n.2715G>C (ZNF276)
NR_110126.1:n.2598G>C (ZNF276)
NR_110128.1:n.2521G>C (ZNF276)
NR_110129.1:n.2610G>C (ZNF276)
XM_005256294.3:c.4202C>G (FANCA)	XP_005256351.1:p.Ser1401Trp
XM_011522945.1:c.4073C>G (FANCA)	XP_011521247.1:p.Ser1358Trp
XM_011522946.1:c.3179C>G (FANCA)	XP_011521248.1:p.Ser1060Trp
XM_011522947.1:c.3179C>G (FANCA)	XP_011521249.1:p.Ser1060Trp
XR_933244.1:n.4165C>G (FANCA)
XR_933245.1:n.4102C>G (FANCA)
NM_000135.3:c.4198C>G (FANCA)	NP_000126.2:p.Arg1400Gly
NM_001286167.2:c.4202C>G (FANCA)	NP_001273096.1:p.Ser1401Trp
XM_005256294.4:c.4202C>G (FANCA)	XP_005256351.1:p.Ser1401Trp
XM_011522945.2:c.4073C>G (FANCA)	XP_011521247.1:p.Ser1358Trp
XM_011522946.3:c.3179C>G (FANCA)	XP_011521248.1:p.Ser1060Trp
XM_011522947.2:c.3179C>G (FANCA)	XP_011521249.1:p.Ser1060Trp
XM_017023044.2:c.4069C>G (FANCA)	XP_016878533.1:p.Arg1357Gly
XM_017023890.1:c.*698G>C (ZNF276)	XP_016879379.1:n.*698G>C
XM_024450189.1:c.3179C>G (FANCA)	XP_024305957.1:p.Ser1060Trp
XR_933244.2:n.4165C>G (FANCA)
XR_933245.2:n.4102C>G (FANCA)
XR_933484.2:n.2709G>C (ZNF276)
NM_000135.4:c.4198C>G (FANCA) MANE Select	NP_000126.2:p.Arg1400Gly
NM_001113525.2:c.*698G>C (ZNF276) MANE Select	NP_001106997.1:n.*698G>C
NM_001286167.3:c.4202C>G (FANCA)	NP_001273096.1:p.Ser1401Trp
NM_152287.4:c.*698G>C (ZNF276)	NP_689500.2:n.*698G>C
NR_110122.2:n.2698G>C (ZNF276)
NR_110126.2:n.2581G>C (ZNF276)
NR_110129.2:n.2615G>C (ZNF276)
NR_110128.2:n.2521G>C (ZNF276)