Linked Data
ClinVar Variation Id:
550738
dbSNP Id:
rs778175128
ExAC:
7:117199668 T / C
gnomAD v2:
7-117199668-T-C
gnomAD v4:
7-117559614-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117559614T>C , CM000669.2:g.117559614T>C | GRCh38 |
| NC_000007.13:g.117199668T>C , CM000669.1:g.117199668T>C | GRCh37 |
| NC_000007.12:g.116986904T>C | NCBI36 |
| NG_016465.4:g.98831T>C , LRG_663:g.98831T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.1543T>C (CFTR) | ENSP00000497673.2:p.Tyr515His | |
| ENST00000647978.2:c.*1257T>C (CFTR) | ENSP00000497658.1:n.*1257T>C | |
| ENST00000649781.2:c.1360T>C (CFTR) | ENSP00000497203.1:p.Tyr454His | |
| ENST00000685018.2:c.1543T>C (CFTR) | ENSP00000510194.2:p.Tyr515His | |
| ENST00000687278.2:c.1543T>C (CFTR) | ENSP00000509593.2:p.Tyr515His | |
| ENST00000699585.1:c.1543T>C (CFTR) | ENSP00000514456.1:p.Tyr515His | |
| ENST00000699596.1:c.1543T>C (CFTR) | ENSP00000514465.1:p.Tyr515His | |
| ENST00000699597.1:c.*101T>C (CFTR) | ENSP00000514466.1:n.*101T>C | |
| ENST00000699598.1:c.1543T>C (CFTR) | ENSP00000514467.1:p.Tyr515His | |
| ENST00000699599.1:c.1543T>C (CFTR) | ENSP00000514468.1:p.Tyr515His | |
| ENST00000699600.1:c.1543T>C (CFTR) | ENSP00000514469.1:p.Tyr515His | |
| ENST00000699601.1:c.1543T>C (CFTR) | ENSP00000514470.1:p.Tyr515His | |
| ENST00000699602.1:c.1543T>C (CFTR) | ENSP00000514471.1:p.Tyr515His | |
| ENST00000699604.1:c.*1367T>C (CFTR) | ENSP00000514472.1:n.*1367T>C | |
| ENST00000699605.1:c.1117T>C (CFTR) | ENSP00000514473.1:p.Tyr373His | |
| ENST00000003084.11:c.1543T>C (CFTR) MANE Select | ENSP00000003084.6:p.Tyr515His | |
| ENST00000647978.1:c.*1257T>C (CFTR) | ENSP00000497658.1:n.*1257T>C | |
| ENST00000648260.1:c.1360T>C (CFTR) | ENSP00000497957.1:p.Tyr454His | |
| ENST00000649406.1:c.1360T>C (CFTR) | ENSP00000497965.1:p.Tyr454His | |
| ENST00000649781.1:c.1360T>C (CFTR) | ENSP00000497203.1:p.Tyr454His | |
| ENST00000003084.10:c.1543T>C (CFTR) | ENSP00000003084.6:p.Tyr515His | |
| ENST00000426809.5:c.1453T>C (CFTR) | ENSP00000389119.1:p.Tyr485His | |
| NM_000492.3:c.1543T>C , LRG_663t1:c.1543T>C (CFTR) | NP_000483.3:p.Tyr515His | |
| XM_011515751.1:c.1633T>C (CFTR) | XP_011514053.1:p.Tyr545His | |
| XM_011515752.1:c.1633T>C (CFTR) | XP_011514054.1:p.Tyr545His | |
| XM_011515753.1:c.1300T>C (CFTR) | XP_011514055.1:p.Tyr434His | |
| XM_011515754.1:c.1300T>C (CFTR) | XP_011514056.1:p.Tyr434His | |
| NR_149084.1:n.221+1119A>G (CFTR-AS1) | ||
| NM_000492.4:c.1543T>C (CFTR) MANE Select | NP_000483.3:p.Tyr515His |