SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
ClinVar Variation Id:
43020
ClinVar RCV Id:
RCV000035914
RCV000172762
RCV000203136
RCV000254102
RCV000331016
RCV000712360
RCV000758034
RCV000852699
dbSNP Id:
rs3729823
ExAC:
14:23886409 G / C
gnomAD v2:
14-23886409-G-C
gnomAD v3:
14-23417200-G-C
gnomAD v4:
14-23417200-G-C
ERepo:
CA015008/MONDO:0004994/002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23417200G>C , CM000676.2:g.23417200G>C | GRCh38 |
| NC_000014.8:g.23886409G>C , CM000676.1:g.23886409G>C | GRCh37 |
| NC_000014.7:g.22956249G>C | NCBI36 |
| NG_007884.1:g.23462C>G , LRG_384:g.23462C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4472C>G (MYH7) MANE Select | ENSP00000347507.3:p.Ser1491Cys | |
| ENST00000355349.3:c.4472C>G (MYH7) | ENSP00000347507.3:p.Ser1491Cys | |
| NM_000257.3:c.4472C>G (MYH7) | NP_000248.2:p.Ser1491Cys | |
| NR_126491.1:n.652-12G>C (MHRT) | ||
| XM_017021340.1:c.4472C>G (MYH7) | XP_016876829.1:p.Ser1491Cys | |
| NM_000257.4:c.4472C>G (MYH7) MANE Select | NP_000248.2:p.Ser1491Cys |