Canonical Allele Identifier: CA016295
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 43076
ClinVar RCV Id: RCV000035971 RCV000690579 RCV000766472 RCV000758051 RCV000770466 RCV002345283 RCV002490491
dbSNP Id: rs45520836
ExAC: 14:23883283 C / T
gnomAD v2: 14-23883283-C-T
gnomAD v3: 14-23414074-C-T
gnomAD v4: 14-23414074-C-T
MyVariant Identifiers: chr14:g.23883283C>T (hg19) chr14:g.23414074C>T (hg38)
ERepo: CA016295/MONDO:0005021/002
PubMed: PMID:19412328 PMID:29300372
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23414074C>T , CM000676.2:g.23414074C>T GRCh38
NC_000014.8:g.23883283C>T , CM000676.1:g.23883283C>T GRCh37
NC_000014.7:g.22953123C>T NCBI36
NG_007884.1:g.26588G>A , LRG_384:g.26588G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5588G>A MANE Select ENSP00000347507.3:p.Arg1863Gln
ENST00000355349.3:c.5588G>A ENSP00000347507.3:p.Arg1863Gln
NM_000257.3:c.5588G>A NP_000248.2:p.Arg1863Gln
XM_017021340.1:c.5588G>A XP_016876829.1:p.Arg1863Gln
NM_000257.4:c.5588G>A MANE Select NP_000248.2:p.Arg1863Gln
Search 100 bp 5'
Search 100 bp 3'