Canonical Allele Identifier: CA013473
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 177826
ClinVar RCV Id: RCV000154461 RCV000172886 RCV000803421 RCV001171207 RCV001197489
dbSNP Id: rs727504342
ExAC: 14:23891398 C / T
gnomAD v2: 14-23891398-C-T
gnomAD v3: 14-23422189-C-T
gnomAD v4: 14-23422189-C-T
MyVariant Identifiers: chr14:g.23891398C>T (hg19) chr14:g.23422189C>T (hg38)
PubMed: PMID:20359594 PMID:21750094 PMID:22958901 PMID:24749114 PMID:25611685 PMID:27532257 PMID:27600940
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422189C>T , CM000676.2:g.23422189C>T GRCh38
NC_000014.8:g.23891398C>T , CM000676.1:g.23891398C>T GRCh37
NC_000014.7:g.22961238C>T NCBI36
NG_007884.1:g.18473G>A , LRG_384:g.18473G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3236G>A MANE Select ENSP00000347507.3:p.Arg1079Gln
ENST00000355349.3:c.3236G>A ENSP00000347507.3:p.Arg1079Gln
NM_000257.3:c.3236G>A NP_000248.2:p.Arg1079Gln
XR_245686.3:n.3342G>A
XM_017021340.1:c.3236G>A XP_016876829.1:p.Arg1079Gln
NM_000257.4:c.3236G>A MANE Select NP_000248.2:p.Arg1079Gln
Search 100 bp 5'
Search 100 bp 3'