Canonical Allele Identifier: CA015352
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 43039
ClinVar RCV Id: RCV000035933 RCV000201450 RCV000475488 RCV000619414 RCV000627158 RCV000766463 RCV000769443 RCV000852453
dbSNP Id: rs373514686
ExAC: 14:23885349 C / T
gnomAD v2: 14-23885349-C-T
gnomAD v3: 14-23416140-C-T
gnomAD v4: 14-23416140-C-T
COSMIC: COSM954747
MyVariant Identifiers: chr14:g.23885349C>T (hg19) chr14:g.23416140C>T (hg38)
PubMed: PMID:23861362 PMID:24093860 PMID:24793961 PMID:25031304 PMID:25351510
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416140C>T , CM000676.2:g.23416140C>T GRCh38
NC_000014.8:g.23885349C>T , CM000676.1:g.23885349C>T GRCh37
NC_000014.7:g.22955189C>T NCBI36
NG_007884.1:g.24522G>A , LRG_384:g.24522G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.4817G>A (MYH7) MANE Select ENSP00000347507.3:p.Arg1606His
ENST00000355349.3:c.4817G>A (MYH7) ENSP00000347507.3:p.Arg1606His
NM_000257.3:c.4817G>A (MYH7) NP_000248.2:p.Arg1606His
NR_126491.1:n.401C>T (MHRT)
XM_017021340.1:c.4817G>A (MYH7) XP_016876829.1:p.Arg1606His
NM_000257.4:c.4817G>A (MYH7) MANE Select NP_000248.2:p.Arg1606His
Search 100 bp 5'
Search 100 bp 3'