Canonical Allele Identifier: CA497194469
Community Standard Title: NM_000135.4(FANCA):c.3819G>A (p.Leu1273=)
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89740813C>T , CM000678.2:g.89740813C>T GRCh38
NC_000016.9:g.89807221C>T , CM000678.1:g.89807221C>T GRCh37
NC_000016.8:g.88334722C>T NCBI36
NG_011706.1:g.80845G>A , LRG_495:g.80845G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000135.4:c.3819G>A (FANCA) MANE Select NP_000126.2:p.Leu1273=
NM_001113525.2:c.*2567C>T (ZNF276) MANE Select NP_001106997.1:n.*2567C>T
ENST00000389301.8:c.3819G>A (FANCA) MANE Select ENSP00000373952.3:p.Leu1273=
ENST00000443381.7:c.*2567C>T (ZNF276) MANE Select ENSP00000415836.2:n.*2567C>T
NM_000135.2:c.3819G>A , LRG_495t1:c.3819G>A (FANCA) NP_000126.2:p.Leu1273=
NM_000135.3:c.3819G>A (FANCA) NP_000126.2:p.Leu1273=
NM_001113525.1:c.*2567C>T (ZNF276) NP_001106997.1:n.*2567C>T
NM_001286167.1:c.3819G>A (FANCA) NP_001273096.1:p.Leu1273=
NM_001286167.2:c.3819G>A (FANCA) NP_001273096.1:p.Leu1273=
NM_001286167.3:c.3819G>A (FANCA) NP_001273096.1:p.Leu1273=
NM_152287.3:c.*2567C>T (ZNF276) NP_689500.2:n.*2567C>T
NM_152287.4:c.*2567C>T (ZNF276) NP_689500.2:n.*2567C>T
NR_110122.2:n.4567C>T (ZNF276)
NR_110126.2:n.4450C>T (ZNF276)
NR_110128.2:n.4390C>T (ZNF276)
NR_110129.2:n.4484C>T (ZNF276)
ENST00000289816.9:c.*2567C>T (ZNF276) ENSP00000289816.5:n.*2567C>T
ENST00000305699.15:n.1062G>A (FANCA)
ENST00000389301.7:c.3819G>A (FANCA) ENSP00000373952.3:p.Leu1273=
ENST00000561667.2:c.*2297G>A (FANCA) ENSP00000512522.1:n.*2297G>A
ENST00000564475.5:c.149G>A (FANCA)
ENST00000564475.6:c.3819G>A (FANCA) ENSP00000454977.2:p.Leu1273=
ENST00000564870.1:c.30-714G>A (FANCA)
ENST00000564969.5:n.104G>A (FANCA)
ENST00000567510.2:c.2389G>A (FANCA) ENSP00000455969.1:n.2389G>A
ENST00000567879.5:c.297G>A (FANCA) ENSP00000457006.1:p.Leu99=
ENST00000568369.5:c.3819G>A (FANCA) ENSP00000456829.1:p.Leu1273=
ENST00000568369.6:c.3819G>A (FANCA) ENSP00000456829.1:p.Leu1273=
ENST00000568626.1:c.528G>A (FANCA)
ENST00000696274.1:n.3780G>A (FANCA)
ENST00000696275.1:c.*3054G>A (FANCA) ENSP00000512517.1:n.*3054G>A
ENST00000696286.1:c.3819G>A (FANCA) ENSP00000512523.1:p.Leu1273=
ENST00000696287.1:c.3690G>A (FANCA) ENSP00000512524.1:p.Leu1230=
ENST00000696291.1:c.*3251G>A (FANCA) ENSP00000512530.1:n.*3251G>A
XM_005256294.3:c.3819G>A (FANCA) XP_005256351.1:p.Leu1273=
XM_005256294.4:c.3819G>A (FANCA) XP_005256351.1:p.Leu1273=
XM_011522945.1:c.3690G>A (FANCA) XP_011521247.1:p.Leu1230=
XM_011522945.2:c.3690G>A (FANCA) XP_011521247.1:p.Leu1230=
XM_011522946.1:c.2796G>A (FANCA) XP_011521248.1:p.Leu932=
XM_011522946.3:c.2796G>A (FANCA) XP_011521248.1:p.Leu932=
XM_011522947.1:c.2796G>A (FANCA) XP_011521249.1:p.Leu932=
XM_011522947.2:c.2796G>A (FANCA) XP_011521249.1:p.Leu932=
XM_017023044.2:c.3690G>A (FANCA) XP_016878533.1:p.Leu1230=
XM_024450189.1:c.2796G>A (FANCA) XP_024305957.1:p.Leu932=
XR_001751866.1:n.3689G>A (FANCA)
XR_933244.1:n.3862G>A (FANCA)
XR_933244.2:n.3862G>A (FANCA)
XR_933245.1:n.3723G>A (FANCA)
XR_933245.2:n.3723G>A (FANCA)
XR_933246.1:n.3689G>A (FANCA)