Linked Data
ClinVar Variation Id:
525268
dbSNP Id:
rs146505940
ExAC:
6:38913335 C / T
gnomAD v2:
6-38913335-C-T
gnomAD v3:
6-38945559-C-T
gnomAD v4:
6-38945559-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38945559C>T , CM000668.2:g.38945559C>T | GRCh38 |
| NC_000006.11:g.38913335C>T , CM000668.1:g.38913335C>T | GRCh37 |
| NC_000006.10:g.39021313C>T | NCBI36 |
| NG_041805.1:g.235219C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327475.11:c.12100C>T (DNAH8) MANE Select | ENSP00000333363.7:p.Leu4034Phe | |
| ENST00000327475.10:c.12100C>T (DNAH8) | ENSP00000333363.7:p.Leu4034Phe | |
| ENST00000359357.7:c.11449C>T (DNAH8) | ENSP00000352312.3:p.Leu3817Phe | |
| ENST00000449981.6:c.12100C>T (DNAH8) | ENSP00000415331.2:p.Leu4034Phe | |
| NM_001206927.1:c.12100C>T (DNAH8) | NP_001193856.1:p.Leu4034Phe | |
| NR_038401.1:n.60+7489G>A (DNAH8-AS1) | ||
| XM_011514318.1:c.12037C>T (DNAH8) | XP_011512620.1:p.Leu4013Phe | |
| XM_011514319.1:c.11992C>T (DNAH8) | XP_011512621.1:p.Leu3998Phe | |
| XM_011514320.1:c.11863C>T (DNAH8) | XP_011512622.1:p.Leu3955Phe | |
| XM_011514321.1:c.11449C>T (DNAH8) | XP_011512623.1:p.Leu3817Phe | |
| XR_926078.1:n.12217C>T (DNAH8) | ||
| NM_001371.3:c.11449C>T (DNAH8) | NP_001362.2:p.Leu3817Phe | |
| XM_011514318.2:c.12037C>T (DNAH8) | XP_011512620.1:p.Leu4013Phe | |
| XM_011514319.2:c.11992C>T (DNAH8) | XP_011512621.1:p.Leu3998Phe | |
| XM_011514320.2:c.11863C>T (DNAH8) | XP_011512622.1:p.Leu3955Phe | |
| XM_017010325.1:c.12100C>T (DNAH8) | XP_016865814.1:p.Leu4034Phe | |
| XM_017010326.1:c.12100C>T (DNAH8) | XP_016865815.1:p.Leu4034Phe | |
| XR_926078.2:n.12220C>T (DNAH8) | ||
| NM_001206927.2:c.12100C>T (DNAH8) MANE Select | NP_001193856.1:p.Leu4034Phe | |
| NM_001371.4:c.11449C>T (DNAH8) | NP_001362.2:p.Leu3817Phe |