Linked Data
ClinVar Variation Id:
2887
dbSNP Id:
rs114378922
ExAC:
11:126316772 C / T
gnomAD v2:
11-126316772-C-T
gnomAD v3:
11-126446877-C-T
gnomAD v4:
11-126446877-C-T
PubMed:
PMID:19012874
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126446877C>T , CM000673.2:g.126446877C>T | GRCh38 |
| NC_000011.9:g.126316772C>T , CM000673.1:g.126316772C>T | GRCh37 |
| NC_000011.8:g.125821982C>T | NCBI36 |
| NG_012971.1:g.558995G>A | |
| NG_053025.1:g.96233C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525144.7:c.1007G>A (KIRREL3) MANE Select | ENSP00000435466.2:p.Arg336Gln | |
| ENST00000416561.6:c.884G>A (KIRREL3) | ENSP00000408692.3:p.Arg295Gln | |
| ENST00000525144.6:c.1007G>A (KIRREL3) | ENSP00000435466.2:p.Arg336Gln | |
| ENST00000525704.2:c.1007G>A (KIRREL3) | ENSP00000435094.2:p.Arg336Gln | |
| ENST00000529097.6:c.1007G>A (KIRREL3) | ENSP00000434081.2:p.Arg336Gln | |
| NM_001161707.1:c.1007G>A (KIRREL3) | NP_001155179.1:p.Arg336Gln | |
| NM_001301097.1:c.1007G>A (KIRREL3) | NP_001288026.1:p.Arg336Gln | |
| NM_032531.3:c.1007G>A (KIRREL3) | NP_115920.1:p.Arg336Gln | |
| XM_011542959.1:c.905+6558C>T (ST3GAL4) | XP_011541261.1:n.905+6558C>T | |
| XM_011542960.1:c.905+6558C>T (ST3GAL4) | XP_011541262.1:n.905+6558C>T | |
| XM_011542961.1:c.970-5724C>T (ST3GAL4) | XP_011541263.1:n.970-5724C>T | |
| XM_011542962.1:c.969+6494C>T (ST3GAL4) | XP_011541264.1:n.969+6494C>T | |
| XM_011543026.1:c.1025G>A (KIRREL3) | XP_011541328.1:p.Arg342Gln | |
| XM_011543027.1:c.1007G>A (KIRREL3) | XP_011541329.1:p.Arg336Gln | |
| XM_011543028.1:c.1007G>A (KIRREL3) | XP_011541330.1:p.Arg336Gln | |
| XM_011543029.1:c.1007G>A (KIRREL3) | XP_011541331.1:p.Arg336Gln | |
| XM_011543030.1:c.1025G>A (KIRREL3) | XP_011541332.1:p.Arg342Gln | |
| XM_011543031.1:c.1007G>A (KIRREL3) | XP_011541333.1:p.Arg336Gln | |
| XM_011543032.1:c.1025G>A (KIRREL3) | XP_011541334.1:p.Arg342Gln | |
| XM_011543033.1:c.1007G>A (KIRREL3) | XP_011541335.1:p.Arg336Gln | |
| XM_011543034.1:c.440G>A (KIRREL3) | XP_011541336.1:p.Arg147Gln | |
| XM_011543026.2:c.1025G>A (KIRREL3) | XP_011541328.1:p.Arg342Gln | |
| XM_011543027.2:c.1007G>A (KIRREL3) | XP_011541329.1:p.Arg336Gln | |
| XM_011543028.2:c.1007G>A (KIRREL3) | XP_011541330.1:p.Arg336Gln | |
| XM_011543030.3:c.1025G>A (KIRREL3) | XP_011541332.1:p.Arg342Gln | |
| XM_011543031.2:c.1007G>A (KIRREL3) | XP_011541333.1:p.Arg336Gln | |
| XM_011543032.3:c.1025G>A (KIRREL3) | XP_011541334.1:p.Arg342Gln | |
| XM_017018419.1:c.1007G>A (KIRREL3) | XP_016873908.1:p.Arg336Gln | |
| XM_017018420.1:c.1007G>A (KIRREL3) | XP_016873909.1:p.Arg336Gln | |
| NM_032531.4:c.1007G>A (KIRREL3) MANE Select | NP_115920.1:p.Arg336Gln |