Linked Data
dbSNP Id:
rs1007791747
gnomAD v2:
4-15397818-C-T
gnomAD v3:
4-15396194-C-T
gnomAD v4:
4-15396194-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15396194C>T , CM000666.2:g.15396194C>T | GRCh38 |
| NC_000004.11:g.15397818C>T , CM000666.1:g.15397818C>T | GRCh37 |
| NC_000004.10:g.15006916C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295297.4:c.14-39542C>T (C1QTNF7) | ENSP00000295297.4:n.14-39542C>T | |
| ENST00000382383.7:c.-9+21425C>T (C1QTNF7) | ENSP00000371820.3:n.-9+21425C>T | |
| ENST00000397700.6:c.14-39542C>T (C1QTNF7) | ENSP00000380812.2:n.14-39542C>T | |
| ENST00000429690.5:c.-9+21425C>T (C1QTNF7) | ENSP00000410722.1:n.-9+21425C>T | |
| NM_001135170.1:c.14-39542C>T (C1QTNF7) | NP_001128642.1:n.14-39542C>T | |
| NM_001135171.1:c.-9+21425C>T (C1QTNF7) | NP_001128643.1:n.-9+21425C>T | |
| NR_125911.1:n.86+31635G>A (C1QTNF7-AS1) | ||
| XM_011513772.1:c.14-39542C>T (C1QTNF7) | XP_011512074.1:n.14-39542C>T | |
| NM_001135170.2:c.14-39542C>T (C1QTNF7) | NP_001128642.1:n.14-39542C>T | |
| NM_001135171.2:c.-9+21425C>T (C1QTNF7) | NP_001128643.1:n.-9+21425C>T |