Canonical Allele Identifier: CA389052597
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 935358
ClinVar RCV Id: RCV001203929
dbSNP Id: rs1445208076
MyVariant Identifiers: chr14:g.23901074C>T (hg19) chr14:g.23431865C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431865C>T , CM000676.2:g.23431865C>T GRCh38
NC_000014.8:g.23901074C>T , CM000676.1:g.23901074C>T GRCh37
NC_000014.7:g.22970914C>T NCBI36
NG_007884.1:g.8797G>A , LRG_384:g.8797G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.535G>A MANE Select ENSP00000347507.3:p.Glu179Lys
ENST00000355349.3:c.535G>A ENSP00000347507.3:p.Glu179Lys
NM_000257.3:c.535G>A NP_000248.2:p.Glu179Lys
XR_245686.3:n.641G>A
XM_017021340.1:c.535G>A XP_016876829.1:p.Glu179Lys
NM_000257.4:c.535G>A MANE Select NP_000248.2:p.Glu179Lys
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