Linked Data
ClinVar Variation Id:
191368
ClinVar RCV Id:
RCV000171550
dbSNP Id:
rs786205856
PubMed:
PMID:25168386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27445929A>C , CM000664.2:g.27445929A>C | GRCh38 |
| NC_000002.11:g.27668796A>C , CM000664.1:g.27668796A>C | GRCh37 |
| NC_000002.10:g.27522300A>C | NCBI36 |
| NG_034068.1:g.48883T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.4815T>G (IFT172) MANE Select | ENSP00000260570.3:p.Asp1605Glu | |
| ENST00000674594.1:n.1427T>G (IFT172) | ||
| ENST00000674701.1:c.*4328T>G (IFT172) | ENSP00000502275.1:n.*4328T>G | |
| ENST00000674824.1:c.*3263T>G (IFT172) | ENSP00000501824.1:n.*3263T>G | |
| ENST00000674932.1:c.*5261T>G (IFT172) | ENSP00000501967.1:n.*5261T>G | |
| ENST00000675410.1:c.*2804T>G (IFT172) | ENSP00000502030.1:n.*2804T>G | |
| ENST00000675690.1:c.4749T>G (IFT172) | ENSP00000502283.1:p.Asp1583Glu | |
| ENST00000676119.1:c.*4041T>G (IFT172) | ENSP00000501701.1:n.*4041T>G | |
| ENST00000260570.7:c.4815T>G (IFT172) | ENSP00000260570.3:p.Asp1605Glu | |
| ENST00000420854.1:c.387T>G (IFT172) | ENSP00000398633.1:p.Asp129Glu | |
| ENST00000452499.1:c.195-372A>C (KRTCAP3) | ENSP00000388115.1:n.195-372A>C | |
| ENST00000479419.1:n.277T>G (IFT172) | ||
| ENST00000494163.1:n.268T>G (IFT172) | ||
| ENST00000507184.5:n.5096T>G (IFT172) | ||
| ENST00000509128.5:c.1233T>G (IFT172) | ||
| ENST00000543753.5:c.*6-372A>C (KRTCAP3) | ENSP00000442400.1:n.*6-372A>C | |
| NM_001168364.1:c.*6-372A>C (KRTCAP3) | NP_001161836.1:n.*6-372A>C | |
| NM_015662.2:c.4815T>G (IFT172) | NP_056477.1:p.Asp1605Glu | |
| XM_005264254.1:c.4749T>G (IFT172) | XP_005264311.1:p.Asp1583Glu | |
| XM_006711986.2:c.4752T>G (IFT172) | XP_006712049.1:p.Asp1584Glu | |
| XM_006711987.1:c.4815T>G (IFT172) | XP_006712050.1:p.Asp1605Glu | |
| XM_011532757.1:c.4134T>G (IFT172) | XP_011531059.1:p.Asp1378Glu | |
| XM_011532759.1:c.3255T>G (IFT172) | XP_011531061.1:p.Asp1085Glu | |
| XM_011532760.1:c.2880T>G (IFT172) | XP_011531062.1:p.Asp960Glu | |
| XM_006711986.3:c.4752T>G (IFT172) | XP_006712049.1:p.Asp1584Glu | |
| XM_011532757.2:c.4134T>G (IFT172) | XP_011531059.1:p.Asp1378Glu | |
| XM_011532759.2:c.3255T>G (IFT172) | XP_011531061.1:p.Asp1085Glu | |
| XM_011532760.2:c.2880T>G (IFT172) | XP_011531062.1:p.Asp960Glu | |
| XM_017003790.1:c.4686T>G (IFT172) | XP_016859279.1:p.Asp1562Glu | |
| XM_017003791.1:c.4134T>G (IFT172) | XP_016859280.1:p.Asp1378Glu | |
| XM_017003793.1:c.2952T>G (IFT172) | XP_016859282.1:p.Asp984Glu | |
| XM_017003794.1:c.2952T>G (IFT172) | XP_016859283.1:p.Asp984Glu | |
| XM_017003795.1:c.2748T>G (IFT172) | XP_016859284.1:p.Asp916Glu | |
| NM_015662.3:c.4815T>G (IFT172) MANE Select | NP_056477.1:p.Asp1605Glu | |
| NM_001168364.2:c.*6-372A>C (KRTCAP3) | NP_001161836.1:n.*6-372A>C |