Canonical Allele Identifier: CA010341
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 180434
ClinVar RCV Id: RCV000157354 RCV000537983
dbSNP Id: rs730880158
gnomAD v2: 14-23898502-C-T
gnomAD v3: 14-23429293-C-T
gnomAD v4: 14-23429293-C-T
COSMIC: COSM5923083
MyVariant Identifiers: chr14:g.23898502C>T (hg19) chr14:g.23429293C>T (hg38)
ERepo: CA010341/MONDO:0005045/002
PubMed: PMID:18533079
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429293C>T , CM000676.2:g.23429293C>T GRCh38
NC_000014.8:g.23898502C>T , CM000676.1:g.23898502C>T GRCh37
NC_000014.7:g.22968342C>T NCBI36
NG_007884.1:g.11369G>A , LRG_384:g.11369G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1193G>A MANE Select ENSP00000347507.3:p.Gly398Glu
ENST00000355349.3:c.1193G>A ENSP00000347507.3:p.Gly398Glu
NM_000257.3:c.1193G>A NP_000248.2:p.Gly398Glu
XR_245686.3:n.1299G>A
XM_017021340.1:c.1193G>A XP_016876829.1:p.Gly398Glu
NM_000257.4:c.1193G>A MANE Select NP_000248.2:p.Gly398Glu
Search 100 bp 5'
Search 100 bp 3'