Linked Data
ClinVar Variation Id:
43032
ClinVar RCV Id:
RCV000035926
RCV000247901
RCV000277849
RCV000332866
RCV000293254
RCV000320200
RCV000758024
RCV001094203
RCV001705654
RCV003320080
dbSNP Id:
rs7140196
ExAC:
14:23885450 G / A
gnomAD v2:
14-23885450-G-A
gnomAD v3:
14-23416241-G-A
gnomAD v4:
14-23416241-G-A
COSMIC:
COSM262222
ERepo:
CA015251/MONDO:0004994/002
PubMed:
PMID:29300372
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23416241G>A , CM000676.2:g.23416241G>A | GRCh38 |
| NC_000014.8:g.23885450G>A , CM000676.1:g.23885450G>A | GRCh37 |
| NC_000014.7:g.22955290G>A | NCBI36 |
| NG_007884.1:g.24421C>T , LRG_384:g.24421C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4716C>T (MYH7) MANE Select | ENSP00000347507.3:p.Ile1572= | |
| ENST00000355349.3:c.4716C>T (MYH7) | ENSP00000347507.3:p.Ile1572= | |
| NM_000257.3:c.4716C>T (MYH7) | NP_000248.2:p.Ile1572= | |
| NR_126491.1:n.502G>A (MHRT) | ||
| XM_017021340.1:c.4716C>T (MYH7) | XP_016876829.1:p.Ile1572= | |
| NM_000257.4:c.4716C>T (MYH7) MANE Select | NP_000248.2:p.Ile1572= |