Canonical Allele Identifier: CA257815799
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2773928
ClinVar RCV Id: RCV003532691
dbSNP Id: rs1005639082
gnomAD v2: 14-23889403-C-T
gnomAD v4: 14-23420194-C-T
MyVariant Identifiers: chr14:g.23889403C>T (hg19) chr14:g.23420194C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420194C>T , CM000676.2:g.23420194C>T GRCh38
NC_000014.8:g.23889403C>T , CM000676.1:g.23889403C>T GRCh37
NC_000014.7:g.22959243C>T NCBI36
NG_007884.1:g.20468G>A , LRG_384:g.20468G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3377G>A MANE Select ENSP00000347507.3:p.Arg1126His
ENST00000355349.3:c.3377G>A ENSP00000347507.3:p.Arg1126His
NM_000257.3:c.3377G>A NP_000248.2:p.Arg1126His
XR_245686.3:n.3485G>A
XM_017021340.1:c.3377G>A XP_016876829.1:p.Arg1126His
NM_000257.4:c.3377G>A MANE Select NP_000248.2:p.Arg1126His
Search 100 bp 5'
Search 100 bp 3'