Canonical Allele Identifier: CA013046
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 164313
ClinVar RCV Id: RCV000158574 RCV000527742 RCV000622071
dbSNP Id: rs727503252
gnomAD v4: 14-23424047-C-T
MyVariant Identifiers: chr14:g.23893256C>T (hg19) chr14:g.23424047C>T (hg38)
PubMed: PMID:12974739 PMID:15856146 PMID:19666645 PMID:20038417 PMID:25351510 PMID:27532257
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424047C>T , CM000676.2:g.23424047C>T GRCh38
NC_000014.8:g.23893256C>T , CM000676.1:g.23893256C>T GRCh37
NC_000014.7:g.22963096C>T NCBI36
NG_007884.1:g.16615G>A , LRG_384:g.16615G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2782G>A MANE Select ENSP00000347507.3:p.Asp928Asn
ENST00000355349.3:c.2782G>A ENSP00000347507.3:p.Asp928Asn
NM_000257.3:c.2782G>A NP_000248.2:p.Asp928Asn
XR_245686.3:n.2888G>A
XM_017021340.1:c.2782G>A XP_016876829.1:p.Asp928Asn
NM_000257.4:c.2782G>A MANE Select NP_000248.2:p.Asp928Asn
Search 100 bp 5'
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