Linked Data
ClinVar Variation Id:
1023364
ClinVar RCV Id:
RCV001323393
dbSNP Id:
rs1892272742
gnomAD v4:
14-23417550-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23417550T>C , CM000676.2:g.23417550T>C | GRCh38 |
| NC_000014.8:g.23886759T>C , CM000676.1:g.23886759T>C | GRCh37 |
| NC_000014.7:g.22956599T>C | NCBI36 |
| NG_007884.1:g.23112A>G , LRG_384:g.23112A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4306A>G (MYH7) MANE Select | ENSP00000347507.3:p.Asn1436Asp | |
| ENST00000355349.3:c.4306A>G (MYH7) | ENSP00000347507.3:p.Asn1436Asp | |
| NM_000257.3:c.4306A>G (MYH7) | NP_000248.2:p.Asn1436Asp | |
| NR_126491.1:n.831T>C (MHRT) | ||
| XM_017021340.1:c.4306A>G (MYH7) | XP_016876829.1:p.Asn1436Asp | |
| NM_000257.4:c.4306A>G (MYH7) MANE Select | NP_000248.2:p.Asn1436Asp |