Linked Data
ClinVar Variation Id:
388317
dbSNP Id:
rs199667794
ExAC:
2:27668787 C / T
gnomAD v2:
2-27668787-C-T
gnomAD v3:
2-27445920-C-T
gnomAD v4:
2-27445920-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27445920C>T , CM000664.2:g.27445920C>T | GRCh38 |
| NC_000002.11:g.27668787C>T , CM000664.1:g.27668787C>T | GRCh37 |
| NC_000002.10:g.27522291C>T | NCBI36 |
| NG_034068.1:g.48892G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.4815+9G>A (IFT172) MANE Select | ENSP00000260570.3:n.4815+9G>A | |
| ENST00000674594.1:n.1427+9G>A (IFT172) | ||
| ENST00000674701.1:c.*4328+9G>A (IFT172) | ENSP00000502275.1:n.*4328+9G>A | |
| ENST00000674824.1:c.*3263+9G>A (IFT172) | ENSP00000501824.1:n.*3263+9G>A | |
| ENST00000674932.1:c.*5261+9G>A (IFT172) | ENSP00000501967.1:n.*5261+9G>A | |
| ENST00000675410.1:c.*2804+9G>A (IFT172) | ENSP00000502030.1:n.*2804+9G>A | |
| ENST00000675690.1:c.4749+9G>A (IFT172) | ENSP00000502283.1:n.4749+9G>A | |
| ENST00000676119.1:c.*4041+9G>A (IFT172) | ENSP00000501701.1:n.*4041+9G>A | |
| ENST00000260570.7:c.4815+9G>A (IFT172) | ENSP00000260570.3:n.4815+9G>A | |
| ENST00000420854.1:c.387+9G>A (IFT172) | ENSP00000398633.1:n.387+9G>A | |
| ENST00000452499.1:c.195-381C>T (KRTCAP3) | ENSP00000388115.1:n.195-381C>T | |
| ENST00000479419.1:n.277+9G>A (IFT172) | ||
| ENST00000494163.1:n.268+9G>A (IFT172) | ||
| ENST00000507184.5:n.5096+9G>A (IFT172) | ||
| ENST00000509128.5:c.1233+9G>A (IFT172) | ||
| ENST00000543753.5:c.*6-381C>T (KRTCAP3) | ENSP00000442400.1:n.*6-381C>T | |
| NM_001168364.1:c.*6-381C>T (KRTCAP3) | NP_001161836.1:n.*6-381C>T | |
| NM_015662.2:c.4815+9G>A (IFT172) | NP_056477.1:n.4815+9G>A | |
| XM_005264254.1:c.4749+9G>A (IFT172) | XP_005264311.1:n.4749+9G>A | |
| XM_006711986.2:c.4752+9G>A (IFT172) | XP_006712049.1:n.4752+9G>A | |
| XM_006711987.1:c.4815+9G>A (IFT172) | XP_006712050.1:n.4815+9G>A | |
| XM_011532757.1:c.4134+9G>A (IFT172) | XP_011531059.1:n.4134+9G>A | |
| XM_011532759.1:c.3255+9G>A (IFT172) | XP_011531061.1:n.3255+9G>A | |
| XM_011532760.1:c.2880+9G>A (IFT172) | XP_011531062.1:n.2880+9G>A | |
| XM_006711986.3:c.4752+9G>A (IFT172) | XP_006712049.1:n.4752+9G>A | |
| XM_011532757.2:c.4134+9G>A (IFT172) | XP_011531059.1:n.4134+9G>A | |
| XM_011532759.2:c.3255+9G>A (IFT172) | XP_011531061.1:n.3255+9G>A | |
| XM_011532760.2:c.2880+9G>A (IFT172) | XP_011531062.1:n.2880+9G>A | |
| XM_017003790.1:c.4686+9G>A (IFT172) | XP_016859279.1:n.4686+9G>A | |
| XM_017003791.1:c.4134+9G>A (IFT172) | XP_016859280.1:n.4134+9G>A | |
| XM_017003793.1:c.2952+9G>A (IFT172) | XP_016859282.1:n.2952+9G>A | |
| XM_017003794.1:c.2952+9G>A (IFT172) | XP_016859283.1:n.2952+9G>A | |
| XM_017003795.1:c.2748+9G>A (IFT172) | XP_016859284.1:n.2748+9G>A | |
| NM_015662.3:c.4815+9G>A (IFT172) MANE Select | NP_056477.1:n.4815+9G>A | |
| NM_001168364.2:c.*6-381C>T (KRTCAP3) | NP_001161836.1:n.*6-381C>T |