Linked Data
ClinVar Variation Id:
363596
ClinVar RCV Id:
RCV000322034
dbSNP Id:
rs3395
gnomAD v2:
8-68334411-T-C
gnomAD v3:
8-67422176-T-C
gnomAD v4:
8-67422176-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67422176T>C , CM000670.2:g.67422176T>C | GRCh38 |
| NC_000008.10:g.68334411T>C , CM000670.1:g.68334411T>C | GRCh37 |
| NC_000008.9:g.68496965T>C | NCBI36 |
| NG_027682.1:g.329210A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297770.10:c.*328A>G (CPA6) MANE Select | ENSP00000297770.4:n.*328A>G | |
| ENST00000638254.1:c.*1238A>G (CPA6) | ENSP00000491129.1:n.*1238A>G | |
| ENST00000639508.1:n.615A>G (CPA6) | ||
| ENST00000297770.8:c.*328A>G (CPA6) | ENSP00000297770.4:n.*328A>G | |
| ENST00000479862.6:c.*950A>G (CPA6) | ENSP00000419016.2:n.*950A>G | |
| NM_020361.4:c.*328A>G (CPA6) | NP_065094.3:n.*328A>G | |
| XM_011517569.1:c.*328A>G (CPA6) | XP_011515871.1:n.*328A>G | |
| XM_011517570.1:c.*328A>G (CPA6) | XP_011515872.1:n.*328A>G | |
| NR_136224.1:n.470-20034T>C (ARFGEF1-DT) | ||
| XM_011517570.2:c.*328A>G (CPA6) | XP_011515872.1:n.*328A>G | |
| XM_017013646.1:c.*328A>G (CPA6) | XP_016869135.1:n.*328A>G | |
| NM_020361.5:c.*328A>G (CPA6) MANE Select | NP_065094.3:n.*328A>G |