Canonical Allele Identifier: CA016534
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 43094
ClinVar RCV Id: RCV000035989
dbSNP Id: rs397516259
MyVariant Identifiers: chr14:g.23900999G>T (hg19) chr14:g.23431790G>T (hg38)
PubMed: PMID:15698845 PMID:17599605
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431790G>T , CM000676.2:g.23431790G>T GRCh38
NC_000014.8:g.23900999G>T , CM000676.1:g.23900999G>T GRCh37
NC_000014.7:g.22970839G>T NCBI36
NG_007884.1:g.8872C>A , LRG_384:g.8872C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.610C>A MANE Select ENSP00000347507.3:p.Arg204Ser
ENST00000355349.3:c.610C>A ENSP00000347507.3:p.Arg204Ser
NM_000257.3:c.610C>A NP_000248.2:p.Arg204Ser
XR_245686.3:n.716C>A
XM_017021340.1:c.610C>A XP_016876829.1:p.Arg204Ser
NM_000257.4:c.610C>A MANE Select NP_000248.2:p.Arg204Ser
Search 100 bp 5'
Search 100 bp 3'