Canonical Allele Identifier: CA013367
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 177753
ClinVar RCV Id: RCV000658686 RCV000628877 RCV001170267 RCV002321635 RCV001537864 RCV004528886
dbSNP Id: rs45611033
ExAC: 14:23891501 G / A
gnomAD v2: 14-23891501-G-A
gnomAD v3: 14-23422292-G-A
gnomAD v4: 14-23422292-G-A
MyVariant Identifiers: chr14:g.23891501G>A (hg19) chr14:g.23422292G>A (hg38)
PubMed: PMID:17394955 PMID:18533079 PMID:19412328 PMID:20215591 PMID:21483645 PMID:21832052 PMID:29300372
ERepo: CA013367/MONDO:0005045/002
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422292G>A , CM000676.2:g.23422292G>A GRCh38
NC_000014.8:g.23891501G>A , CM000676.1:g.23891501G>A GRCh37
NC_000014.7:g.22961341G>A NCBI36
NG_007884.1:g.18370C>T , LRG_384:g.18370C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3133C>T MANE Select ENSP00000347507.3:p.Arg1045Cys
ENST00000355349.3:c.3133C>T ENSP00000347507.3:p.Arg1045Cys
NM_000257.3:c.3133C>T NP_000248.2:p.Arg1045Cys
XR_245686.3:n.3239C>T
XM_017021340.1:c.3133C>T XP_016876829.1:p.Arg1045Cys
NM_000257.4:c.3133C>T MANE Select NP_000248.2:p.Arg1045Cys
Search 100 bp 5'
Search 100 bp 3'