Canonical Allele Identifier: CA011471
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 14113
ClinVar RCV Id: RCV000015169 RCV000819604 RCV002408466
dbSNP Id: rs121913646
gnomAD v4: 14-23427271-G-A
COSMIC: COSM1707200
MyVariant Identifiers: chr14:g.23896480G>A (hg19) chr14:g.23427271G>A (hg38)
ERepo: CA011471/MONDO:0005045/002
PubMed: PMID:12379228
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23427271G>A , CM000676.2:g.23427271G>A GRCh38
NC_000014.8:g.23896480G>A , CM000676.1:g.23896480G>A GRCh37
NC_000014.7:g.22966320G>A NCBI36
NG_007884.1:g.13391C>T , LRG_384:g.13391C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.1925C>T MANE Select ENSP00000347507.3:p.Ser642Leu
ENST00000355349.3:c.1925C>T ENSP00000347507.3:p.Ser642Leu
NM_000257.3:c.1925C>T NP_000248.2:p.Ser642Leu
XR_245686.3:n.2031C>T
XM_017021340.1:c.1925C>T XP_016876829.1:p.Ser642Leu
NM_000257.4:c.1925C>T MANE Select NP_000248.2:p.Ser642Leu
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