Linked Data
ClinVar Variation Id:
943200
dbSNP Id:
rs1194197356
gnomAD v3:
14-23416195-G-A
gnomAD v4:
14-23416195-G-A
COSMIC:
COSM954750
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23416195G>A , CM000676.2:g.23416195G>A | GRCh38 |
| NC_000014.8:g.23885404G>A , CM000676.1:g.23885404G>A | GRCh37 |
| NC_000014.7:g.22955244G>A | NCBI36 |
| NG_007884.1:g.24467C>T , LRG_384:g.24467C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4762C>T (MYH7) MANE Select | ENSP00000347507.3:p.Arg1588Cys | |
| ENST00000355349.3:c.4762C>T (MYH7) | ENSP00000347507.3:p.Arg1588Cys | |
| NM_000257.3:c.4762C>T (MYH7) | NP_000248.2:p.Arg1588Cys | |
| NR_126491.1:n.456G>A (MHRT) | ||
| XM_017021340.1:c.4762C>T (MYH7) | XP_016876829.1:p.Arg1588Cys | |
| NM_000257.4:c.4762C>T (MYH7) MANE Select | NP_000248.2:p.Arg1588Cys |