Linked Data
ClinVar Variation Id:
97022
dbSNP Id:
rs149614625
ExAC:
2:27667370 A / G
gnomAD v2:
2-27667370-A-G
gnomAD v3:
2-27444503-A-G
gnomAD v4:
2-27444503-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27444503A>G , CM000664.2:g.27444503A>G | GRCh38 |
| NC_000002.11:g.27667370A>G , CM000664.1:g.27667370A>G | GRCh37 |
| NC_000002.10:g.27520874A>G | NCBI36 |
| NG_034068.1:g.50309T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.5179T>C (IFT172) MANE Select | ENSP00000260570.3:p.Cys1727Arg | |
| ENST00000674932.1:c.*5625T>C (IFT172) | ENSP00000501967.1:n.*5625T>C | |
| ENST00000675410.1:c.*3168T>C (IFT172) | ENSP00000502030.1:n.*3168T>C | |
| ENST00000675690.1:c.5113T>C (IFT172) | ENSP00000502283.1:p.Cys1705Arg | |
| ENST00000676119.1:c.*4405T>C (IFT172) | ENSP00000501701.1:n.*4405T>C | |
| ENST00000260570.7:c.5179T>C (IFT172) | ENSP00000260570.3:p.Cys1727Arg | |
| ENST00000452499.1:c.194+442A>G (KRTCAP3) | ENSP00000388115.1:n.194+442A>G | |
| ENST00000507184.5:n.5460T>C (IFT172) | ||
| ENST00000509128.5:c.1597T>C (IFT172) | ||
| ENST00000543753.5:c.*5+442A>G (KRTCAP3) | ENSP00000442400.1:n.*5+442A>G | |
| NM_001168364.1:c.*5+442A>G (KRTCAP3) | NP_001161836.1:n.*5+442A>G | |
| NM_015662.2:c.5179T>C (IFT172) | NP_056477.1:p.Cys1727Arg | |
| XM_005264254.1:c.5113T>C (IFT172) | XP_005264311.1:p.Cys1705Arg | |
| XM_006711986.2:c.5116T>C (IFT172) | XP_006712049.1:p.Cys1706Arg | |
| XM_006711987.1:c.5080T>C (IFT172) | XP_006712050.1:p.Cys1694Arg | |
| XM_011532757.1:c.4498T>C (IFT172) | XP_011531059.1:p.Cys1500Arg | |
| XM_011532759.1:c.3619T>C (IFT172) | XP_011531061.1:p.Cys1207Arg | |
| XM_011532760.1:c.3244T>C (IFT172) | XP_011531062.1:p.Cys1082Arg | |
| XM_006711986.3:c.5116T>C (IFT172) | XP_006712049.1:p.Cys1706Arg | |
| XM_011532757.2:c.4498T>C (IFT172) | XP_011531059.1:p.Cys1500Arg | |
| XM_011532759.2:c.3619T>C (IFT172) | XP_011531061.1:p.Cys1207Arg | |
| XM_011532760.2:c.3244T>C (IFT172) | XP_011531062.1:p.Cys1082Arg | |
| XM_017003790.1:c.5050T>C (IFT172) | XP_016859279.1:p.Cys1684Arg | |
| XM_017003791.1:c.4498T>C (IFT172) | XP_016859280.1:p.Cys1500Arg | |
| XM_017003793.1:c.3316T>C (IFT172) | XP_016859282.1:p.Cys1106Arg | |
| XM_017003794.1:c.3316T>C (IFT172) | XP_016859283.1:p.Cys1106Arg | |
| XM_017003795.1:c.3112T>C (IFT172) | XP_016859284.1:p.Cys1038Arg | |
| NM_015662.3:c.5179T>C (IFT172) MANE Select | NP_056477.1:p.Cys1727Arg | |
| NM_001168364.2:c.*5+442A>G (KRTCAP3) | NP_001161836.1:n.*5+442A>G |