Canonical Allele Identifier: CA013227
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42941
ClinVar RCV Id: RCV002433495 RCV002490487 RCV003320058 RCV003914922
dbSNP Id: rs145532615
ExAC: 14:23892910 A / G
gnomAD v2: 14-23892910-A-G
gnomAD v3: 14-23423701-A-G
gnomAD v4: 14-23423701-A-G
MyVariant Identifiers: chr14:g.23892910A>G (hg19) chr14:g.23423701A>G (hg38)
PubMed: PMID:2136805 PMID:3203908 PMID:7883988 PMID:7909436 PMID:8614836 PMID:8981935 PMID:9884344 PMID:10900182 PMID:15322983 PMID:16754800 PMID:17372140 PMID:17947214 PMID:19808347 PMID:19864899 PMID:20624503 PMID:20733148 PMID:21499742 PMID:22763267 PMID:22918376 PMID:23281406 PMID:23299917 PMID:23349452 PMID:23426552 PMID:23861362 PMID:25125180 PMID:25666907 PMID:29300372
ERepo: CA013227/MONDO:0004994/002
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423701A>G , CM000676.2:g.23423701A>G GRCh38
NC_000014.8:g.23892910A>G , CM000676.1:g.23892910A>G GRCh37
NC_000014.7:g.22962750A>G NCBI36
NG_007884.1:g.16961T>C , LRG_384:g.16961T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2945T>C MANE Select ENSP00000347507.3:p.Met982Thr
ENST00000355349.3:c.2945T>C ENSP00000347507.3:p.Met982Thr
NM_000257.3:c.2945T>C NP_000248.2:p.Met982Thr
XR_245686.3:n.3051T>C
XM_017021340.1:c.2945T>C XP_016876829.1:p.Met982Thr
NM_000257.4:c.2945T>C MANE Select NP_000248.2:p.Met982Thr
Search 100 bp 5'
Search 100 bp 3'