Canonical Allele Identifier: CA014494
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42992
ClinVar RCV Id: RCV000208315 RCV000518840 RCV000552931 RCV000617360 RCV001171198 RCV001807755 RCV002504879 RCV004528172
dbSNP Id: rs397516201
gnomAD v2: 14-23887458-G-A
gnomAD v3: 14-23418249-G-A
gnomAD v4: 14-23418249-G-A
COSMIC: COSM221445
MyVariant Identifiers: chr14:g.23887458G>A (hg19) chr14:g.23418249G>A (hg38)
PubMed: PMID:12707239 PMID:15358028 PMID:16352453 PMID:16858239 PMID:18409188 PMID:18533079 PMID:20624503 PMID:21239446 PMID:23590259 PMID:23674513 PMID:24111713 PMID:24510615 PMID:25031304 PMID:26743238 PMID:27247418 PMID:27532257 PMID:27688314 PMID:28202948 PMID:29300372
ERepo: CA014494/MONDO:0005045/002
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23418249G>A , CM000676.2:g.23418249G>A GRCh38
NC_000014.8:g.23887458G>A , CM000676.1:g.23887458G>A GRCh37
NC_000014.7:g.22957298G>A NCBI36
NG_007884.1:g.22413C>T , LRG_384:g.22413C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4130C>T MANE Select ENSP00000347507.3:p.Thr1377Met
ENST00000355349.3:c.4130C>T ENSP00000347507.3:p.Thr1377Met
NM_000257.3:c.4130C>T NP_000248.2:p.Thr1377Met
XM_017021340.1:c.4130C>T XP_016876829.1:p.Thr1377Met
NM_000257.4:c.4130C>T MANE Select NP_000248.2:p.Thr1377Met
Search 100 bp 5'
Search 100 bp 3'