Canonical Allele Identifier: CA397485576
Gene: FANCA HGNC NCBI

Linked Data

ClinVar Variation Id: 456117
ClinVar RCV Id: RCV000538241
dbSNP Id: rs1351484293

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89744962C>A , CM000678.2:g.89744962C>A GRCh38
NC_000016.9:g.89811370C>A , CM000678.1:g.89811370C>A GRCh37
NC_000016.8:g.88338871C>A NCBI36
NG_011706.1:g.76696G>T , LRG_495:g.76696G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*2101G>T ENSP00000512522.1:n.*2101G>T
ENST00000564475.6:c.3623G>T ENSP00000454977.2:p.Ser1208Ile
ENST00000567510.2:c.2193G>T ENSP00000455969.1:n.2193G>T
ENST00000568369.6:c.3623G>T ENSP00000456829.1:p.Ser1208Ile
ENST00000568983.6:n.642G>T
ENST00000696274.1:n.3584G>T
ENST00000696275.1:c.*2858G>T ENSP00000512517.1:n.*2858G>T
ENST00000696286.1:c.3623G>T ENSP00000512523.1:p.Ser1208Ile
ENST00000696287.1:c.3494G>T ENSP00000512524.1:p.Ser1165Ile
ENST00000696291.1:c.*3055G>T ENSP00000512530.1:n.*3055G>T
ENST00000389301.8:c.3623G>T MANE Select ENSP00000373952.3:p.Ser1208Ile
ENST00000305699.15:n.866G>T
ENST00000389301.7:c.3623G>T ENSP00000373952.3:p.Ser1208Ile
ENST00000564969.5:n.47G>T
ENST00000567879.5:c.101G>T ENSP00000457006.1:p.Ser34Ile
ENST00000567988.5:c.875G>T
ENST00000568369.5:c.3623G>T ENSP00000456829.1:p.Ser1208Ile
ENST00000568626.1:c.471G>T
ENST00000568983.5:n.451G>T
NM_000135.2:c.3623G>T , LRG_495t1:c.3623G>T NP_000126.2:p.Ser1208Ile
NM_001286167.1:c.3623G>T NP_001273096.1:p.Ser1208Ile
XM_005256294.3:c.3623G>T XP_005256351.1:p.Ser1208Ile
XM_011522945.1:c.3494G>T XP_011521247.1:p.Ser1165Ile
XM_011522946.1:c.2600G>T XP_011521248.1:p.Ser867Ile
XM_011522947.1:c.2600G>T XP_011521249.1:p.Ser867Ile
XR_933244.1:n.3666G>T
XR_933245.1:n.3666G>T
XR_933246.1:n.3493G>T
NM_000135.3:c.3623G>T NP_000126.2:p.Ser1208Ile
NM_001286167.2:c.3623G>T NP_001273096.1:p.Ser1208Ile
XM_005256294.4:c.3623G>T XP_005256351.1:p.Ser1208Ile
XM_011522945.2:c.3494G>T XP_011521247.1:p.Ser1165Ile
XM_011522946.3:c.2600G>T XP_011521248.1:p.Ser867Ile
XM_011522947.2:c.2600G>T XP_011521249.1:p.Ser867Ile
XM_017023044.2:c.3494G>T XP_016878533.1:p.Ser1165Ile
XM_024450189.1:c.2600G>T XP_024305957.1:p.Ser867Ile
XR_001751866.1:n.3493G>T
XR_933244.2:n.3666G>T
XR_933245.2:n.3666G>T
NM_000135.4:c.3623G>T MANE Select NP_000126.2:p.Ser1208Ile
NM_001286167.3:c.3623G>T NP_001273096.1:p.Ser1208Ile