Canonical Allele Identifier: CA389048349
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1791718
ClinVar RCV Id: RCV002455521 RCV003487036 RCV003586368
dbSNP Id: rs1278076805
gnomAD v4: 14-23424980-C-T
MyVariant Identifiers: chr14:g.23894189C>T (hg19) chr14:g.23424980C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424980C>T , CM000676.2:g.23424980C>T GRCh38
NC_000014.8:g.23894189C>T , CM000676.1:g.23894189C>T GRCh37
NC_000014.7:g.22964029C>T NCBI36
NG_007884.1:g.15682G>A , LRG_384:g.15682G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2468G>A MANE Select ENSP00000347507.3:p.Gly823Glu
ENST00000355349.3:c.2468G>A ENSP00000347507.3:p.Gly823Glu
NM_000257.3:c.2468G>A NP_000248.2:p.Gly823Glu
XR_245686.3:n.2574G>A
XM_017021340.1:c.2468G>A XP_016876829.1:p.Gly823Glu
NM_000257.4:c.2468G>A MANE Select NP_000248.2:p.Gly823Glu
Search 100 bp 5'
Search 100 bp 3'