Canonical Allele Identifier: CA012723
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 177667
ClinVar RCV Id: RCV000458948 RCV000587299 RCV000709745 RCV000845415 RCV001189960 RCV002426734 RCV002498735
dbSNP Id: rs202141173
ExAC: 14:23894051 C / T
gnomAD v2: 14-23894051-C-T
gnomAD v3: 14-23424842-C-T
gnomAD v4: 14-23424842-C-T
COSMIC: COSM4050071
MyVariant Identifiers: chr14:g.23894051C>T (hg19) chr14:g.23424842C>T (hg38)
ERepo: CA012723/MONDO:0005045/002
PubMed: PMID:15358028 PMID:15563892 PMID:16858239 PMID:17180650 PMID:18533079 PMID:20359594 PMID:21835320 PMID:22763267 PMID:23674513 PMID:24793961 PMID:25078086 PMID:25524337 PMID:27247418 PMID:27532257
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424842C>T , CM000676.2:g.23424842C>T GRCh38
NC_000014.8:g.23894051C>T , CM000676.1:g.23894051C>T GRCh37
NC_000014.7:g.22963891C>T NCBI36
NG_007884.1:g.15820G>A , LRG_384:g.15820G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2606G>A MANE Select ENSP00000347507.3:p.Arg869His
ENST00000355349.3:c.2606G>A ENSP00000347507.3:p.Arg869His
NM_000257.3:c.2606G>A NP_000248.2:p.Arg869His
XR_245686.3:n.2712G>A
XM_017021340.1:c.2606G>A XP_016876829.1:p.Arg869His
NM_000257.4:c.2606G>A MANE Select NP_000248.2:p.Arg869His
Search 100 bp 5'
Search 100 bp 3'