Canonical Allele Identifier: CA012022
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 177665
ClinVar RCV Id: RCV000158523 RCV000619837 RCV000678722 RCV002466449
dbSNP Id: rs121913632
gnomAD v3: 14-23425760-C-A
gnomAD v4: 14-23425760-C-A
MyVariant Identifiers: chr14:g.23894969C>A (hg19) chr14:g.23425760C>A (hg38)
PubMed: PMID:8483915 PMID:8533830 PMID:12707239 PMID:15358028 PMID:15563892 PMID:15856146 PMID:22429680 PMID:23074333 PMID:24093860 PMID:25351510 PMID:26914223 PMID:27247418 PMID:29300372
ERepo: CA012022/MONDO:0005045/002
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425760C>A , CM000676.2:g.23425760C>A GRCh38
NC_000014.8:g.23894969C>A , CM000676.1:g.23894969C>A GRCh37
NC_000014.7:g.22964809C>A NCBI36
NG_007884.1:g.14902G>T , LRG_384:g.14902G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2221G>T MANE Select ENSP00000347507.3:p.Gly741Trp
ENST00000355349.3:c.2221G>T ENSP00000347507.3:p.Gly741Trp
NM_000257.3:c.2221G>T NP_000248.2:p.Gly741Trp
XR_245686.3:n.2327G>T
XM_017021340.1:c.2221G>T XP_016876829.1:p.Gly741Trp
NM_000257.4:c.2221G>T MANE Select NP_000248.2:p.Gly741Trp
Search 100 bp 5'
Search 100 bp 3'