Linked Data
dbSNP Id:
rs16891867
gnomAD v2:
4-15397364-A-G
gnomAD v3:
4-15395740-A-G
gnomAD v4:
4-15395740-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15395740A>G , CM000666.2:g.15395740A>G | GRCh38 |
| NC_000004.11:g.15397364A>G , CM000666.1:g.15397364A>G | GRCh37 |
| NC_000004.10:g.15006462A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295297.4:c.14-39996A>G (C1QTNF7) | ENSP00000295297.4:n.14-39996A>G | |
| ENST00000382383.7:c.-9+20971A>G (C1QTNF7) | ENSP00000371820.3:n.-9+20971A>G | |
| ENST00000397700.6:c.14-39996A>G (C1QTNF7) | ENSP00000380812.2:n.14-39996A>G | |
| ENST00000429690.5:c.-9+20971A>G (C1QTNF7) | ENSP00000410722.1:n.-9+20971A>G | |
| NM_001135170.1:c.14-39996A>G (C1QTNF7) | NP_001128642.1:n.14-39996A>G | |
| NM_001135171.1:c.-9+20971A>G (C1QTNF7) | NP_001128643.1:n.-9+20971A>G | |
| NR_125911.1:n.86+32089T>C (C1QTNF7-AS1) | ||
| XM_011513772.1:c.14-39996A>G (C1QTNF7) | XP_011512074.1:n.14-39996A>G | |
| NM_001135170.2:c.14-39996A>G (C1QTNF7) | NP_001128642.1:n.14-39996A>G | |
| NM_001135171.2:c.-9+20971A>G (C1QTNF7) | NP_001128643.1:n.-9+20971A>G |