Canonical Allele Identifier: CA013775
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 181224
ClinVar RCV Id: RCV000158608 RCV001248603 RCV002453545 RCV003531997
dbSNP Id: rs730880776
gnomAD v3: 14-23420096-C-T
gnomAD v4: 14-23420096-C-T
MyVariant Identifiers: chr14:g.23889305C>T (hg19) chr14:g.23420096C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420096C>T , CM000676.2:g.23420096C>T GRCh38
NC_000014.8:g.23889305C>T , CM000676.1:g.23889305C>T GRCh37
NC_000014.7:g.22959145C>T NCBI36
NG_007884.1:g.20566G>A , LRG_384:g.20566G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3475G>A MANE Select ENSP00000347507.3:p.Val1159Met
ENST00000355349.3:c.3475G>A ENSP00000347507.3:p.Val1159Met
NM_000257.3:c.3475G>A NP_000248.2:p.Val1159Met
XM_017021340.1:c.3475G>A XP_016876829.1:p.Val1159Met
NM_000257.4:c.3475G>A MANE Select NP_000248.2:p.Val1159Met
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