Canonical Allele Identifier: CA014774
Gene: MYH7 HGNC NCBI
ClinGen Classification:
Classification Likely Pathogenic
Condition hypertrophic cardiomyopathy
VCEP Cardiomyopathy VCEP
ClinVar RCV:
RCV000157348
RCV000158731
RCV000168835
RCV000477095
RCV002326728
RCV002496545
RCV003149623
ClinVar Variation:
43006
dbSNP:
397516209
gnomAD v2:
14:23901922 C / T
gnomAD v3:
14:23432713 C / T
gnomAD v4:
chr14-23432713-C-T
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
MyVariant.info:
GRCh38 chr14:g.23432713C>T
GRCh37 chr14:g.23901922C>T
Revel Score:
ENST00000355349 (MANE Select) 0.803
ENST00000544444 0.803
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23432713C>T , CM000676.2:g.23432713C>T GRCh38
NC_000014.8:g.23901922C>T , CM000676.1:g.23901922C>T GRCh37
NC_000014.7:g.22971762C>T NCBI36
NG_007884.1:g.7949G>A , LRG_384:g.7949G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.428G>A MANE Select ENSP00000347507.3:p.Arg143Gln
ENST00000355349.3:c.428G>A ENSP00000347507.3:p.Arg143Gln
NM_000257.3:c.428G>A NP_000248.2:p.Arg143Gln
XR_245686.3:n.534G>A
XM_017021340.1:c.428G>A XP_016876829.1:p.Arg143Gln
NM_000257.4:c.428G>A MANE Select NP_000248.2:p.Arg143Gln
Search 100 bp 5'
Search 100 bp 3'