Canonical Allele Identifier: CA257823323
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1635083
ClinVar RCV Id: RCV002133189
dbSNP Id: rs890974007
MyVariant Identifiers: chr14:g.23898212G>C (hg19) chr14:g.23429003G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429003G>C , CM000676.2:g.23429003G>C GRCh38
NC_000014.8:g.23898212G>C , CM000676.1:g.23898212G>C GRCh37
NC_000014.7:g.22968052G>C NCBI36
NG_007884.1:g.11659C>G , LRG_384:g.11659C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1359C>G MANE Select ENSP00000347507.3:p.Arg453=
ENST00000355349.3:c.1359C>G ENSP00000347507.3:p.Arg453=
NM_000257.3:c.1359C>G NP_000248.2:p.Arg453=
XR_245686.3:n.1465C>G
XM_017021340.1:c.1359C>G XP_016876829.1:p.Arg453=
NM_000257.4:c.1359C>G MANE Select NP_000248.2:p.Arg453=
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