Canonical Allele Identifier: CA485765868
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 3030942
ClinVar RCV Id: RCV004531976
gnomAD v4: 14-23415235-C-T
MyVariant Identifiers: chr14:g.23884444C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415235C>T , CM000676.2:g.23415235C>T GRCh38
NC_000014.8:g.23884444C>T , CM000676.1:g.23884444C>T GRCh37
NC_000014.7:g.22954284C>T NCBI36
NG_007884.1:g.25427G>A , LRG_384:g.25427G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5319G>A MANE Select ENSP00000347507.3:p.Gln1773=
ENST00000355349.3:c.5319G>A ENSP00000347507.3:p.Gln1773=
NM_000257.3:c.5319G>A NP_000248.2:p.Gln1773=
XM_017021340.1:c.5319G>A XP_016876829.1:p.Gln1773=
NM_000257.4:c.5319G>A MANE Select NP_000248.2:p.Gln1773=
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