Canonical Allele Identifier: CA013417
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 155814
ClinVar RCV Id: RCV000143923 RCV000158590 RCV000529602 RCV000621026 RCV003149914
dbSNP Id: rs587782962
ExAC: 14:23891476 C / T
gnomAD v2: 14-23891476-C-T
gnomAD v3: 14-23422267-C-T
gnomAD v4: 14-23422267-C-T
COSMIC: COSM1216240
MyVariant Identifiers: chr14:g.23891476C>T (hg19) chr14:g.23422267C>T (hg38)
ERepo: CA013417/MONDO:0005045/002
PubMed: PMID:15556047 PMID:20624503 PMID:24888384 PMID:27247418 PMID:27532257 PMID:29300372
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422267C>T , CM000676.2:g.23422267C>T GRCh38
NC_000014.8:g.23891476C>T , CM000676.1:g.23891476C>T GRCh37
NC_000014.7:g.22961316C>T NCBI36
NG_007884.1:g.18395G>A , LRG_384:g.18395G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.3158G>A MANE Select ENSP00000347507.3:p.Arg1053Gln
ENST00000355349.3:c.3158G>A ENSP00000347507.3:p.Arg1053Gln
NM_000257.3:c.3158G>A NP_000248.2:p.Arg1053Gln
XR_245686.3:n.3264G>A
XM_017021340.1:c.3158G>A XP_016876829.1:p.Arg1053Gln
NM_000257.4:c.3158G>A MANE Select NP_000248.2:p.Arg1053Gln
Search 100 bp 5'
Search 100 bp 3'