Linked Data
ClinVar Variation Id:
191366
dbSNP Id:
rs786205855
gnomAD v4:
2-27446314-G-T
COSMIC:
COSM6261122
PubMed:
PMID:25168386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27446314G>T , CM000664.2:g.27446314G>T | GRCh38 |
| NC_000002.11:g.27669181G>T , CM000664.1:g.27669181G>T | GRCh37 |
| NC_000002.10:g.27522685G>T | NCBI36 |
| NG_034068.1:g.48498C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.4701C>A (IFT172) MANE Select | ENSP00000260570.3:p.His1567Gln | |
| ENST00000674594.1:n.1313C>A (IFT172) | ||
| ENST00000674701.1:c.*4214C>A (IFT172) | ENSP00000502275.1:n.*4214C>A | |
| ENST00000674824.1:c.*3149C>A (IFT172) | ENSP00000501824.1:n.*3149C>A | |
| ENST00000674932.1:c.*5147C>A (IFT172) | ENSP00000501967.1:n.*5147C>A | |
| ENST00000675410.1:c.*2690C>A (IFT172) | ENSP00000502030.1:n.*2690C>A | |
| ENST00000675690.1:c.4635C>A (IFT172) | ENSP00000502283.1:p.His1545Gln | |
| ENST00000676119.1:c.*3927C>A (IFT172) | ENSP00000501701.1:n.*3927C>A | |
| ENST00000260570.7:c.4701C>A (IFT172) | ENSP00000260570.3:p.His1567Gln | |
| ENST00000420854.1:c.273C>A (IFT172) | ENSP00000398633.1:p.His91Gln | |
| ENST00000452499.1:c.208G>T (KRTCAP3) | ENSP00000388115.1:n.208G>T | |
| ENST00000480892.1:n.104C>A (IFT172) | ||
| ENST00000507184.5:n.4982C>A (IFT172) | ||
| ENST00000509128.5:c.1119C>A (IFT172) | ||
| ENST00000543753.5:c.*19G>T (KRTCAP3) | ENSP00000442400.1:n.*19G>T | |
| NM_001168364.1:c.*19G>T (KRTCAP3) | NP_001161836.1:n.*19G>T | |
| NM_015662.2:c.4701C>A (IFT172) | NP_056477.1:p.His1567Gln | |
| XM_005264254.1:c.4635C>A (IFT172) | XP_005264311.1:p.His1545Gln | |
| XM_006711986.2:c.4638C>A (IFT172) | XP_006712049.1:p.His1546Gln | |
| XM_006711987.1:c.4701C>A (IFT172) | XP_006712050.1:p.His1567Gln | |
| XM_011532757.1:c.4020C>A (IFT172) | XP_011531059.1:p.His1340Gln | |
| XM_011532759.1:c.3141C>A (IFT172) | XP_011531061.1:p.His1047Gln | |
| XM_011532760.1:c.2766C>A (IFT172) | XP_011531062.1:p.His922Gln | |
| XM_006711986.3:c.4638C>A (IFT172) | XP_006712049.1:p.His1546Gln | |
| XM_011532757.2:c.4020C>A (IFT172) | XP_011531059.1:p.His1340Gln | |
| XM_011532759.2:c.3141C>A (IFT172) | XP_011531061.1:p.His1047Gln | |
| XM_011532760.2:c.2766C>A (IFT172) | XP_011531062.1:p.His922Gln | |
| XM_017003790.1:c.4572C>A (IFT172) | XP_016859279.1:p.His1524Gln | |
| XM_017003791.1:c.4020C>A (IFT172) | XP_016859280.1:p.His1340Gln | |
| XM_017003793.1:c.2838C>A (IFT172) | XP_016859282.1:p.His946Gln | |
| XM_017003794.1:c.2838C>A (IFT172) | XP_016859283.1:p.His946Gln | |
| XM_017003795.1:c.2634C>A (IFT172) | XP_016859284.1:p.His878Gln | |
| NM_015662.3:c.4701C>A (IFT172) MANE Select | NP_056477.1:p.His1567Gln | |
| NM_001168364.2:c.*19G>T (KRTCAP3) | NP_001161836.1:n.*19G>T |