Linked Data
ClinVar Variation Id:
370205
ClinVar RCV Id:
RCV000412286
dbSNP Id:
rs1057516313
gnomAD v2:
9-97876920-TG-T
gnomAD v4:
9-95114638-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95114640del , CM000671.2:g.95114640del | GRCh38 |
| NC_000009.11:g.97876922del , CM000671.1:g.97876922del | GRCh37 |
| NC_000009.10:g.96916743del | NCBI36 |
| NG_011707.1:g.208071del , LRG_497:g.208071del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710812.1:n.411-32571del (AOPEP) | ||
| ENST00000289081.8:c.1144del (FANCC) MANE Select | ENSP00000289081.3:p.Gln382ArgfsTer? | |
| ENST00000375305.6:c.1144del (FANCC) | ENSP00000364454.1:p.Gln382ArgfsTer? | |
| ENST00000490972.7:c.1144del (FANCC) | ENSP00000479931.1:p.Gln382ArgfsTer? | |
| ENST00000649334.1:c.1289del (FANCC) | ENSP00000497735.1:n.1289del | |
| ENST00000289081.7:c.1144del (FANCC) | ENSP00000289081.3:p.Gln382ArgfsTer? | |
| ENST00000375305.5:c.1144del (FANCC) | ENSP00000364454.1:p.Gln382ArgfsTer? | |
| ENST00000464627.5:n.471del (FANCC) | ||
| ENST00000464653.1:n.1140del (FANCC) | ||
| ENST00000477942.5:n.499del (FANCC) | ||
| ENST00000480712.5:n.329del (FANCC) | ||
| ENST00000490972.6:c.1144del (FANCC) | ENSP00000479931.1:p.Gln382ArgfsTer? | |
| NM_000136.2:c.1144del , LRG_497t1:c.1144del (FANCC) | NP_000127.2:p.Gln382ArgfsTer? | |
| NM_001243743.1:c.1144del (FANCC) | NP_001230672.1:p.Gln382ArgfsTer? | |
| NM_001243744.1:c.1144del (FANCC) | NP_001230673.1:p.Gln382ArgfsTer? | |
| XM_005251802.2:c.463del (FANCC) | XP_005251859.1:p.Gln155ArgfsTer? | |
| XM_006717001.1:c.979del (FANCC) | XP_006717064.1:p.Gln327ArgfsTer? | |
| XM_006717002.2:c.1144del (FANCC) | XP_006717065.1:p.Gln382ArgfsTer? | |
| XM_006717004.2:c.*39del (FANCC) | XP_006717067.1:n.*39del | |
| XM_011518365.1:c.1144del (FANCC) | XP_011516667.1:p.Gln382ArgfsTer? | |
| XM_011518366.1:c.1144del (FANCC) | XP_011516668.1:p.Gln382ArgfsTer? | |
| XM_011518367.1:c.688del (FANCC) | XP_011516669.1:p.Gln230ArgfsTer? | |
| XM_011519121.1:c.2320-32571del (AOPEP) | XP_011517423.1:n.2320-32571del | |
| XM_005251802.3:c.463del (FANCC) | XP_005251859.1:p.Gln155ArgfsTer? | |
| XM_006717001.3:c.979del (FANCC) | XP_006717064.1:p.Gln327ArgfsTer? | |
| XM_006717002.4:c.1144del (FANCC) | XP_006717065.1:p.Gln382ArgfsTer? | |
| XM_006717004.4:c.*39del (FANCC) | XP_006717067.1:n.*39del | |
| XM_011518365.3:c.1144del (FANCC) | XP_011516667.1:p.Gln382ArgfsTer? | |
| XM_011518366.3:c.1144del (FANCC) | XP_011516668.1:p.Gln382ArgfsTer? | |
| XM_011518367.2:c.688del (FANCC) | XP_011516669.1:p.Gln230ArgfsTer? | |
| XM_011519121.3:c.2320-32571del (AOPEP) | XP_011517423.1:n.2320-32571del | |
| XM_017014452.2:c.688del (FANCC) | XP_016869941.1:p.Gln230ArgfsTer? | |
| XM_017014453.1:c.688del (FANCC) | XP_016869942.1:p.Gln230ArgfsTer? | |
| XM_017014454.1:c.523del (FANCC) | XP_016869943.1:p.Gln175ArgfsTer? | |
| XM_024447451.1:c.1144del (FANCC) | XP_024303219.1:p.Gln382ArgfsTer? | |
| NM_000136.3:c.1144del (FANCC) MANE Select | NP_000127.2:p.Gln382ArgfsTer? | |
| NM_001243743.2:c.1144del (FANCC) | NP_001230672.1:p.Gln382ArgfsTer? | |
| NM_001243744.2:c.1144del (FANCC) | NP_001230673.1:p.Gln382ArgfsTer? |