Canonical Allele Identifier: CA015952
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 177697
ClinVar RCV Id: RCV000154298 RCV000171839 RCV000186557 RCV000465931 RCV000620826 RCV001111830 RCV001183990 RCV002498736 RCV003133153
dbSNP Id: rs200939753
ExAC: 14:23884434 C / T
gnomAD v2: 14-23884434-C-T
gnomAD v3: 14-23415225-C-T
gnomAD v4: 14-23415225-C-T
MyVariant Identifiers: chr14:g.23884434C>T (hg19) chr14:g.23415225C>T (hg38)
ERepo: CA015952/MONDO:0004994/002 CA015952/MONDO:0005045/002
PubMed: PMID:12707239 PMID:23861362 PMID:24793961 PMID:25467552 PMID:25961035 PMID:26627873 PMID:26969127 PMID:27247418 PMID:27532257 PMID:29300372
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415225C>T , CM000676.2:g.23415225C>T GRCh38
NC_000014.8:g.23884434C>T , CM000676.1:g.23884434C>T GRCh37
NC_000014.7:g.22954274C>T NCBI36
NG_007884.1:g.25437G>A , LRG_384:g.25437G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5329G>A MANE Select ENSP00000347507.3:p.Ala1777Thr
ENST00000355349.3:c.5329G>A ENSP00000347507.3:p.Ala1777Thr
NM_000257.3:c.5329G>A NP_000248.2:p.Ala1777Thr
XM_017021340.1:c.5329G>A XP_016876829.1:p.Ala1777Thr
NM_000257.4:c.5329G>A MANE Select NP_000248.2:p.Ala1777Thr
Search 100 bp 5'
Search 100 bp 3'