Linked Data
ClinVar Variation Id:
626811
ClinVar RCV Id:
RCV000770472
dbSNP Id:
rs796681603
gnomAD v3:
14-23416319-A-G
gnomAD v4:
14-23416319-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23416319A>G , CM000676.2:g.23416319A>G | GRCh38 |
| NC_000014.8:g.23885528A>G , CM000676.1:g.23885528A>G | GRCh37 |
| NC_000014.7:g.22955368A>G | NCBI36 |
| NG_007884.1:g.24343T>C , LRG_384:g.24343T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4645-7T>C (MYH7) MANE Select | ENSP00000347507.3:n.4645-7T>C | |
| ENST00000355349.3:c.4645-7T>C (MYH7) | ENSP00000347507.3:n.4645-7T>C | |
| NM_000257.3:c.4645-7T>C (MYH7) | NP_000248.2:n.4645-7T>C | |
| NR_126491.1:n.558+22A>G (MHRT) | ||
| XM_017021340.1:c.4645-7T>C (MYH7) | XP_016876829.1:n.4645-7T>C | |
| NM_000257.4:c.4645-7T>C (MYH7) MANE Select | NP_000248.2:n.4645-7T>C |