Linked Data
ClinVar Variation Id:
364483
dbSNP Id:
rs574535599
gnomAD v3:
9-105558166-G-T
gnomAD v4:
9-105558166-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.105558166G>T , CM000671.2:g.105558166G>T | GRCh38 |
| NC_000009.11:g.108320447G>T , CM000671.1:g.108320447G>T | GRCh37 |
| NC_000009.10:g.107360268G>T | NCBI36 |
| NG_008754.1:g.5037G>T , LRG_434:g.5037G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357998.10:c.-181+1G>T (FKTN) MANE Select | ENSP00000350687.6:n.-181+1G>T | |
| ENST00000602661.6:c.-409+1G>T (FKTN) | ENSP00000473540.2:n.-409+1G>T | |
| ENST00000674563.1:c.-181+1G>T (FKTN) | ENSP00000502153.1:n.-181+1G>T | |
| ENST00000675443.1:c.-89+1G>T (FKTN) | ENSP00000502643.1:n.-89+1G>T | |
| ENST00000675668.1:c.-316+1G>T (FKTN) | ENSP00000502113.1:n.-316+1G>T | |
| ENST00000675695.1:c.-181+1G>T (FKTN) | ENSP00000502460.1:n.-181+1G>T | |
| ENST00000675736.1:c.-1453G>T (FKTN) | ENSP00000502809.1:n.-1453G>T | |
| ENST00000223528.6:c.-89+1G>T (FKTN) | ENSP00000223528.2:n.-89+1G>T | |
| ENST00000448551.6:c.-181+1G>T (FKTN) | ENSP00000399140.2:n.-181+1G>T | |
| ENST00000479846.1:n.16+1G>T (FKTN) | ||
| ENST00000490134.1:n.25+1G>T (FKTN) | ||
| ENST00000602661.5:c.-181+1G>T (FKTN) | ENSP00000473540.1:n.-181+1G>T | |
| NM_001079802.1:c.-181+1G>T , LRG_434t1:c.-181+1G>T (FKTN) | NP_001073270.1:n.-181+1G>T | |
| NM_001198963.1:c.-181+1G>T (FKTN) | NP_001185892.1:n.-181+1G>T | |
| NM_006731.2:c.-89+1G>T , LRG_434t2:c.-89+1G>T (FKTN) | NP_006722.2:n.-89+1G>T | |
| XM_006717014.2:c.-89+1G>T (FKTN) | XP_006717077.1:n.-89+1G>T | |
| XM_011518368.1:c.-316+1G>T (FKTN) | XP_011516670.1:n.-316+1G>T | |
| XM_011518369.1:c.-181+1G>T (FKTN) | XP_011516671.1:n.-181+1G>T | |
| XM_011518373.1:c.-262+1G>T (FKTN) | XP_011516675.1:n.-262+1G>T | |
| XM_011518374.1:c.-89+1G>T (FKTN) | XP_011516676.1:n.-89+1G>T | |
| XM_011518377.1:c.-316+1G>T (FKTN) | XP_011516679.1:n.-316+1G>T | |
| XM_011518378.1:c.-316+1G>T (FKTN) | XP_011516680.1:n.-316+1G>T | |
| XM_011518380.1:c.-316+1G>T (FKTN) | XP_011516682.1:n.-316+1G>T | |
| XM_011518381.1:c.-346+1G>T (FKTN) | XP_011516683.1:n.-346+1G>T | |
| XM_011518386.1:c.-316+1G>T (FKTN) | XP_011516688.1:n.-316+1G>T | |
| XM_011518387.1:c.-316+1G>T (FKTN) | XP_011516689.1:n.-316+1G>T | |
| XM_011518388.1:c.-316+1G>T (FKTN) | XP_011516690.1:n.-316+1G>T | |
| XM_011518389.1:c.-316+1G>T (FKTN) | XP_011516691.1:n.-316+1G>T | |
| XM_011518391.1:c.-316+1G>T (FKTN) | XP_011516693.1:n.-316+1G>T | |
| XR_930209.1:n.100C>A (FKTN-AS1) | ||
| XR_930210.1:n.87+28C>A (FKTN-AS1) | ||
| NM_001351496.1:c.-316+1G>T (FKTN) | NP_001338425.1:n.-316+1G>T | |
| NM_001351497.1:c.-483+1G>T (FKTN) | NP_001338426.1:n.-483+1G>T | |
| NM_001351498.1:c.-89+1G>T (FKTN) | NP_001338427.1:n.-89+1G>T | |
| NM_001351499.1:c.-830+1G>T (FKTN) | NP_001338428.1:n.-830+1G>T | |
| NM_001351500.1:c.-695+1G>T (FKTN) | NP_001338429.1:n.-695+1G>T | |
| NM_001351501.1:c.-603+1G>T (FKTN) | NP_001338430.1:n.-603+1G>T | |
| NM_001351502.1:c.-923+1G>T (FKTN) | NP_001338431.1:n.-923+1G>T | |
| NR_147213.1:n.36+1G>T (FKTN) | ||
| NR_147214.1:n.36+1G>T (FKTN) | ||
| XM_011518368.2:c.-316+1G>T (FKTN) | XP_011516670.1:n.-316+1G>T | |
| XM_011518369.2:c.-181+1G>T (FKTN) | XP_011516671.1:n.-181+1G>T | |
| XM_011518373.2:c.-262+1G>T (FKTN) | XP_011516675.1:n.-262+1G>T | |
| XM_011518374.2:c.-89+1G>T (FKTN) | XP_011516676.1:n.-89+1G>T | |
| XM_011518378.2:c.-316+1G>T (FKTN) | XP_011516680.1:n.-316+1G>T | |
| XM_011518381.3:c.-346+1G>T (FKTN) | XP_011516683.1:n.-346+1G>T | |
| XM_011518387.2:c.-316+1G>T (FKTN) | XP_011516689.1:n.-316+1G>T | |
| XM_011518391.2:c.-316+1G>T (FKTN) | XP_011516693.1:n.-316+1G>T | |
| XM_017014462.1:c.-463+1G>T (FKTN) | XP_016869951.1:n.-463+1G>T | |
| XM_017014464.1:c.-316+1G>T (FKTN) | XP_016869953.1:n.-316+1G>T | |
| XM_017014465.1:c.-181+1G>T (FKTN) | XP_016869954.1:n.-181+1G>T | |
| XM_017014467.1:c.-610G>T (FKTN) | XP_016869956.1:n.-610G>T | |
| XM_017014469.1:c.-316+1G>T (FKTN) | XP_016869958.1:n.-316+1G>T | |
| XM_017014470.1:c.-316+1G>T (FKTN) | XP_016869959.1:n.-316+1G>T | |
| XM_017014472.2:c.-626+1G>T (FKTN) | XP_016869961.1:n.-626+1G>T | |
| XM_017014475.1:c.-89+1G>T (FKTN) | XP_016869964.1:n.-89+1G>T | |
| XR_001746242.2:n.49+1G>T (FKTN) | ||
| XR_001746243.2:n.49+1G>T (FKTN) | ||
| XR_001746244.2:n.49+1G>T (FKTN) | ||
| XR_001746245.1:n.34+1G>T (FKTN) | ||
| XR_002956770.1:n.34+1G>T (FKTN) | ||
| NM_001079802.2:c.-181+1G>T (FKTN) MANE Select | NP_001073270.1:n.-181+1G>T | |
| NM_001198963.2:c.-181+1G>T (FKTN) | NP_001185892.1:n.-181+1G>T | |
| NM_001351496.2:c.-316+1G>T (FKTN) | NP_001338425.1:n.-316+1G>T | |
| NM_001351497.2:c.-483+1G>T (FKTN) | NP_001338426.1:n.-483+1G>T | |
| NM_001351498.2:c.-89+1G>T (FKTN) | NP_001338427.1:n.-89+1G>T | |
| NM_001351499.2:c.-830+1G>T (FKTN) | NP_001338428.1:n.-830+1G>T | |
| NM_001351500.2:c.-695+1G>T (FKTN) | NP_001338429.1:n.-695+1G>T | |
| NM_001351501.2:c.-603+1G>T (FKTN) | NP_001338430.1:n.-603+1G>T | |
| NM_001351502.2:c.-923+1G>T (FKTN) | NP_001338431.1:n.-923+1G>T | |
| NR_147213.2:n.35+1G>T (FKTN) | ||
| NR_147214.2:n.35+1G>T (FKTN) |