Linked Data
ClinVar Variation Id:
363608
ClinVar RCV Id:
RCV000301731
dbSNP Id:
rs886063079
gnomAD v4:
8-67484711-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67484711T>C , CM000670.2:g.67484711T>C | GRCh38 |
| NC_000008.10:g.68396946T>C , CM000670.1:g.68396946T>C | GRCh37 |
| NC_000008.9:g.68559500T>C | NCBI36 |
| NG_027682.1:g.266675A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297770.10:c.715A>G (CPA6) MANE Select | ENSP00000297770.4:p.Asn239Asp | |
| ENST00000638254.1:c.*311A>G (CPA6) | ENSP00000491129.1:n.*311A>G | |
| ENST00000297770.8:c.715A>G (CPA6) | ENSP00000297770.4:p.Asn239Asp | |
| ENST00000479862.6:c.*311A>G (CPA6) | ENSP00000419016.2:n.*311A>G | |
| ENST00000518549.1:c.715A>G (CPA6) | ENSP00000431112.1:p.Asn239Asp | |
| NM_020361.4:c.715A>G (CPA6) | NP_065094.3:p.Asn239Asp | |
| XM_011517569.1:c.808A>G (CPA6) | XP_011515871.1:p.Asn270Asp | |
| XM_011517570.1:c.271A>G (CPA6) | XP_011515872.1:p.Asn91Asp | |
| NR_136224.1:n.694-6254T>C (ARFGEF1-DT) | ||
| XM_011517570.2:c.271A>G (CPA6) | XP_011515872.1:p.Asn91Asp | |
| XM_017013646.1:c.271A>G (CPA6) | XP_016869135.1:p.Asn91Asp | |
| XR_001745565.1:n.1523A>G (CPA6) | ||
| NM_020361.5:c.715A>G (CPA6) MANE Select | NP_065094.3:p.Asn239Asp |