Canonical Allele Identifier: CA10587769
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 264501
ClinVar RCV Id: RCV000249682 RCV000497921 RCV001859467
dbSNP Id: rs727504374
gnomAD v4: 14-23423947-A-C
MyVariant Identifiers: chr14:g.23893156A>C (hg19) chr14:g.23423947A>C (hg38)
PubMed: PMID:22455086 PMID:28840316
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423947A>C , CM000676.2:g.23423947A>C GRCh38
NC_000014.8:g.23893156A>C , CM000676.1:g.23893156A>C GRCh37
NC_000014.7:g.22962996A>C NCBI36
NG_007884.1:g.16715T>G , LRG_384:g.16715T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2882T>G MANE Select ENSP00000347507.3:p.Leu961Arg
ENST00000355349.3:c.2882T>G ENSP00000347507.3:p.Leu961Arg
NM_000257.3:c.2882T>G NP_000248.2:p.Leu961Arg
XR_245686.3:n.2988T>G
XM_017021340.1:c.2882T>G XP_016876829.1:p.Leu961Arg
NM_000257.4:c.2882T>G MANE Select NP_000248.2:p.Leu961Arg
Search 100 bp 5'
Search 100 bp 3'