Canonical Allele Identifier: CA011799
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42884
ClinVar RCV Id: RCV000035769 RCV000621043 RCV000758064 RCV000712356 RCV001086617 RCV002504877
dbSNP Id: rs145738465
ExAC: 14:23895169 C / T
gnomAD v2: 14-23895169-C-T
gnomAD v3: 14-23425960-C-T
gnomAD v4: 14-23425960-C-T
MyVariant Identifiers: chr14:g.23895169C>T (hg19) chr14:g.23425960C>T (hg38)
PubMed: PMID:29300372
ERepo: CA011799/MONDO:0004994/002
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425960C>T , CM000676.2:g.23425960C>T GRCh38
NC_000014.8:g.23895169C>T , CM000676.1:g.23895169C>T GRCh37
NC_000014.7:g.22965009C>T NCBI36
NG_007884.1:g.14702G>A , LRG_384:g.14702G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2162+4G>A MANE Select ENSP00000347507.3:n.2162+4G>A
ENST00000355349.3:c.2162+4G>A ENSP00000347507.3:n.2162+4G>A
NM_000257.3:c.2162+4G>A NP_000248.2:n.2162+4G>A
XR_245686.3:n.2268+4G>A
XM_017021340.1:c.2162+4G>A XP_016876829.1:n.2162+4G>A
NM_000257.4:c.2162+4G>A MANE Select NP_000248.2:n.2162+4G>A
Search 100 bp 5'
Search 100 bp 3'