Canonical Allele Identifier: CA010585
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 181343
ClinVar RCV Id: RCV000158797 RCV000208202 RCV000468249 RCV002381517
dbSNP Id: rs730880159
MyVariant Identifiers: chr14:g.23898240T>C (hg19) chr14:g.23429031T>C (hg38)
PubMed: PMID:21302287
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429031T>C , CM000676.2:g.23429031T>C GRCh38
NC_000014.8:g.23898240T>C , CM000676.1:g.23898240T>C GRCh37
NC_000014.7:g.22968080T>C NCBI36
NG_007884.1:g.11631A>G , LRG_384:g.11631A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1331A>G MANE Select ENSP00000347507.3:p.Asn444Ser
ENST00000355349.3:c.1331A>G ENSP00000347507.3:p.Asn444Ser
NM_000257.3:c.1331A>G NP_000248.2:p.Asn444Ser
XR_245686.3:n.1437A>G
XM_017021340.1:c.1331A>G XP_016876829.1:p.Asn444Ser
NM_000257.4:c.1331A>G MANE Select NP_000248.2:p.Asn444Ser
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