Canonical Allele Identifier: CA011011
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 14108
ClinVar RCV Id: RCV000015164 RCV000211832 RCV000688025 RCV001570405 RCV002399325 RCV002468970
dbSNP Id: rs121913642
gnomAD v4: 14-23427879-A-G
MyVariant Identifiers: chr14:g.23897088A>G (hg19) chr14:g.23427879A>G (hg38)
ERepo: CA011011/MONDO:0005021/002
PubMed: PMID:11106718 PMID:16983074 PMID:17351073 PMID:23313350 PMID:29300372
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23427879A>G , CM000676.2:g.23427879A>G GRCh38
NC_000014.8:g.23897088A>G , CM000676.1:g.23897088A>G GRCh37
NC_000014.7:g.22966928A>G NCBI36
NG_007884.1:g.12783T>C , LRG_384:g.12783T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.1594T>C MANE Select ENSP00000347507.3:p.Ser532Pro
ENST00000355349.3:c.1594T>C ENSP00000347507.3:p.Ser532Pro
NM_000257.3:c.1594T>C NP_000248.2:p.Ser532Pro
XR_245686.3:n.1700T>C
XM_017021340.1:c.1594T>C XP_016876829.1:p.Ser532Pro
NM_000257.4:c.1594T>C MANE Select NP_000248.2:p.Ser532Pro
Search 100 bp 5'
Search 100 bp 3'