Linked Data
ClinVar Variation Id:
1546633
ClinVar RCV Id:
RCV002173048
dbSNP Id:
rs2135165808
MyVariant Identifiers:
chr9:g.97897664C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95135382C>T , CM000671.2:g.95135382C>T | GRCh38 |
| NC_000009.11:g.97897664C>T , CM000671.1:g.97897664C>T | GRCh37 |
| NC_000009.10:g.96937485C>T | NCBI36 |
| NG_011707.1:g.187328G>A , LRG_497:g.187328G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.411-11829C>T (AOPEP) | ||
| ENST00000696261.1:n.1198G>A (FANCC) | ||
| ENST00000289081.8:c.807G>A (FANCC) MANE Select | ENSP00000289081.3:p.Leu269= | |
| ENST00000375305.6:c.807G>A (FANCC) | ENSP00000364454.1:p.Leu269= | |
| ENST00000490972.7:c.807G>A (FANCC) | ENSP00000479931.1:p.Leu269= | |
| ENST00000649334.1:c.952G>A (FANCC) | ENSP00000497735.1:n.952G>A | |
| ENST00000649701.1:n.522G>A (FANCC) | ||
| ENST00000289081.7:c.807G>A (FANCC) | ENSP00000289081.3:p.Leu269= | |
| ENST00000375305.5:c.807G>A (FANCC) | ENSP00000364454.1:p.Leu269= | |
| ENST00000477942.5:n.162G>A (FANCC) | ||
| ENST00000490972.6:c.807G>A (FANCC) | ENSP00000479931.1:p.Leu269= | |
| NM_000136.2:c.807G>A , LRG_497t1:c.807G>A (FANCC) | NP_000127.2:p.Leu269= | |
| NM_001243743.1:c.807G>A (FANCC) | NP_001230672.1:p.Leu269= | |
| NM_001243744.1:c.807G>A (FANCC) | NP_001230673.1:p.Leu269= | |
| XM_005251802.2:c.126G>A (FANCC) | XP_005251859.1:p.Leu42= | |
| XM_006717001.1:c.642G>A (FANCC) | XP_006717064.1:p.Leu214= | |
| XM_006717002.2:c.807G>A (FANCC) | XP_006717065.1:p.Leu269= | |
| XM_006717004.2:c.807G>A (FANCC) | XP_006717067.1:p.Leu269= | |
| XM_011518365.1:c.807G>A (FANCC) | XP_011516667.1:p.Leu269= | |
| XM_011518366.1:c.807G>A (FANCC) | XP_011516668.1:p.Leu269= | |
| XM_011518367.1:c.351G>A (FANCC) | XP_011516669.1:p.Leu117= | |
| XM_011519121.1:c.2320-11829C>T (AOPEP) | XP_011517423.1:n.2320-11829C>T | |
| XM_005251802.3:c.126G>A (FANCC) | XP_005251859.1:p.Leu42= | |
| XM_006717001.3:c.642G>A (FANCC) | XP_006717064.1:p.Leu214= | |
| XM_006717002.4:c.807G>A (FANCC) | XP_006717065.1:p.Leu269= | |
| XM_006717004.4:c.807G>A (FANCC) | XP_006717067.1:p.Leu269= | |
| XM_011518365.3:c.807G>A (FANCC) | XP_011516667.1:p.Leu269= | |
| XM_011518366.3:c.807G>A (FANCC) | XP_011516668.1:p.Leu269= | |
| XM_011518367.2:c.351G>A (FANCC) | XP_011516669.1:p.Leu117= | |
| XM_011519121.3:c.2320-11829C>T (AOPEP) | XP_011517423.1:n.2320-11829C>T | |
| XM_017014452.2:c.351G>A (FANCC) | XP_016869941.1:p.Leu117= | |
| XM_017014453.1:c.351G>A (FANCC) | XP_016869942.1:p.Leu117= | |
| XM_017014454.1:c.186G>A (FANCC) | XP_016869943.1:p.Leu62= | |
| XM_024447451.1:c.807G>A (FANCC) | XP_024303219.1:p.Leu269= | |
| NM_000136.3:c.807G>A (FANCC) MANE Select | NP_000127.2:p.Leu269= | |
| NM_001243743.2:c.807G>A (FANCC) | NP_001230672.1:p.Leu269= | |
| NM_001243744.2:c.807G>A (FANCC) | NP_001230673.1:p.Leu269= |