Revel Score:
ENST00000200181 (MANE Select)
0.063
ENST00000339591
0.063
ENST00000449880
0.063
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012015 (EAS)
Exomes Max Group AF
0.00011818 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75755806G>A , CM000679.2:g.75755806G>A | GRCh38 |
| NC_000017.10:g.73751887G>A , CM000679.1:g.73751887G>A | GRCh37 |
| NC_000017.9:g.71263482G>A | NCBI36 |
| NG_007372.1:g.39372G>A | |
| NG_008079.2:g.14394C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449880.7:c.4613G>A (ITGB4) | ENSP00000400217.2:p.Arg1538Gln | |
| ENST00000200181.8:c.4664G>A (ITGB4) MANE Select | ENSP00000200181.3:p.Arg1555Gln | |
| ENST00000200181.7:c.4664G>A (ITGB4) | ENSP00000200181.3:p.Arg1555Gln | |
| ENST00000225614.6:c.*22+2228C>T (GALK1) | ENSP00000225614.1:n.*22+2228C>T | |
| ENST00000449880.6:c.4613G>A (ITGB4) | ENSP00000400217.2:p.Arg1538Gln | |
| ENST00000450894.7:c.4454G>A (ITGB4) | ENSP00000405536.3:p.Arg1485Gln | |
| ENST00000579662.5:c.4454G>A (ITGB4) | ENSP00000463651.1:p.Arg1485Gln | |
| ENST00000582629.1:c.266-1820G>A (ITGB4) | ENSP00000463788.1:n.266-1820G>A | |
| ENST00000583327.2:n.697G>A (ITGB4) | ||
| ENST00000584939.1:c.199-623G>A (ITGB4) | ||
| ENST00000589643.1:n.254+2228C>T (GALK1) | ||
| NM_000213.3:c.4664G>A (ITGB4) | NP_000204.3:p.Arg1555Gln | |
| NM_001005619.1:c.4613G>A (ITGB4) | NP_001005619.1:p.Arg1538Gln | |
| NM_001005731.1:c.4454G>A (ITGB4) | NP_001005731.1:p.Arg1485Gln | |
| XM_005257309.2:c.4823G>A (ITGB4) | XP_005257366.1:p.Arg1608Gln | |
| XM_005257311.3:c.4823G>A (ITGB4) | XP_005257368.1:p.Arg1608Gln | |
| XM_005257312.2:c.4454G>A (ITGB4) | XP_005257369.1:p.Arg1485Gln | |
| XM_006721866.2:c.4928G>A (ITGB4) | XP_006721929.1:p.Arg1643Gln | |
| XM_006721867.2:c.4769G>A (ITGB4) | XP_006721930.1:p.Arg1590Gln | |
| XM_006721868.2:c.4718G>A (ITGB4) | XP_006721931.1:p.Arg1573Gln | |
| XM_006721870.2:c.4559G>A (ITGB4) | XP_006721933.1:p.Arg1520Gln | |
| XM_011524751.1:c.4664-623G>A (ITGB4) | XP_011523053.1:n.4664-623G>A | |
| XM_011524752.1:c.2768G>A (ITGB4) | XP_011523054.1:p.Arg923Gln | |
| NM_000213.4:c.4664G>A (ITGB4) | NP_000204.3:p.Arg1555Gln | |
| NM_001005731.2:c.4454G>A (ITGB4) | NP_001005731.1:p.Arg1485Gln | |
| NM_001321123.1:c.4454G>A (ITGB4) | NP_001308052.1:p.Arg1485Gln | |
| XM_005257311.4:c.4823G>A (ITGB4) | XP_005257368.1:p.Arg1608Gln | |
| XM_006721866.3:c.4928G>A (ITGB4) | XP_006721929.1:p.Arg1643Gln | |
| XM_006721867.3:c.4769G>A (ITGB4) | XP_006721930.1:p.Arg1590Gln | |
| XM_006721868.3:c.4718G>A (ITGB4) | XP_006721931.1:p.Arg1573Gln | |
| XM_006721870.3:c.4559G>A (ITGB4) | XP_006721933.1:p.Arg1520Gln | |
| XM_011524751.2:c.4664-623G>A (ITGB4) | XP_011523053.1:n.4664-623G>A | |
| XM_011524752.2:c.2768G>A (ITGB4) | XP_011523054.1:p.Arg923Gln | |
| NM_000213.5:c.4664G>A (ITGB4) MANE Select | NP_000204.3:p.Arg1555Gln | |
| NM_001005731.3:c.4454G>A (ITGB4) | NP_001005731.1:p.Arg1485Gln | |
| NM_001321123.2:c.4454G>A (ITGB4) | NP_001308052.1:p.Arg1485Gln | |
| NM_001381985.1:c.*22+2228C>T (GALK1) | NP_001368914.1:n.*22+2228C>T |