Canonical Allele Identifier: CA1345029008
Gene: FANCD2 HGNC NCBI

Linked Data

dbSNP Id: rs1265025935
gnomAD v4: 3-10043399-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10043399C>G , CM000665.2:g.10043399C>G GRCh38
NC_000003.11:g.10085083C>G , CM000665.1:g.10085083C>G GRCh37
NC_000003.10:g.10060083C>G NCBI36
NG_007311.1:g.21971C>G , LRG_306:g.21971C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682647.1:c.*910-85C>G ENSP00000506736.1:n.*910-85C>G
ENST00000675286.1:c.990-85C>G MANE Select ENSP00000502379.1:n.990-85C>G
ENST00000676013.1:c.990-85C>G ENSP00000501999.1:n.990-85C>G
ENST00000287647.7:c.990-85C>G ENSP00000287647.3:n.990-85C>G
ENST00000383807.5:c.990-85C>G ENSP00000373318.1:n.990-85C>G
ENST00000419585.5:c.990-85C>G ENSP00000398754.1:n.990-85C>G
NM_001018115.1:c.990-85C>G , LRG_306t1:c.990-85C>G NP_001018125.1:n.990-85C>G
NM_033084.3:c.990-85C>G , LRG_306t2:c.990-85C>G NP_149075.2:n.990-85C>G
XM_005264946.2:c.990-85C>G XP_005265003.1:n.990-85C>G
XM_006713021.2:c.990-85C>G XP_006713084.1:n.990-85C>G
XM_006713023.2:c.990-85C>G XP_006713086.1:n.990-85C>G
XM_006713024.2:c.990-85C>G XP_006713087.1:n.990-85C>G
XM_011533479.1:c.990-85C>G XP_011531781.1:n.990-85C>G
XR_940391.1:n.1110-85C>G
NM_001018115.2:c.990-85C>G NP_001018125.1:n.990-85C>G
NM_001319984.1:c.990-85C>G NP_001306913.1:n.990-85C>G
NM_033084.4:c.990-85C>G NP_149075.2:n.990-85C>G
NM_001018115.3:c.990-85C>G MANE Select NP_001018125.1:n.990-85C>G
NM_001319984.2:c.990-85C>G NP_001306913.1:n.990-85C>G
NM_001374253.1:c.990-85C>G NP_001361182.1:n.990-85C>G
NM_001374254.1:c.990-85C>G NP_001361183.1:n.990-85C>G
NM_033084.6:c.990-85C>G NP_149075.2:n.990-85C>G