Canonical Allele Identifier: CA010457
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 164376
ClinVar RCV Id: RCV000151293 RCV003531978
dbSNP Id: rs727503267
MyVariant Identifiers: chr14:g.23898302G>A (hg19) chr14:g.23429093G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429093G>A , CM000676.2:g.23429093G>A GRCh38
NC_000014.8:g.23898302G>A , CM000676.1:g.23898302G>A GRCh37
NC_000014.7:g.22968142G>A NCBI36
NG_007884.1:g.11569C>T , LRG_384:g.11569C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1269C>T MANE Select ENSP00000347507.3:p.Ala423=
ENST00000355349.3:c.1269C>T ENSP00000347507.3:p.Ala423=
NM_000257.3:c.1269C>T NP_000248.2:p.Ala423=
XR_245686.3:n.1375C>T
XM_017021340.1:c.1269C>T XP_016876829.1:p.Ala423=
NM_000257.4:c.1269C>T MANE Select NP_000248.2:p.Ala423=
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Search 100 bp 3'