Canonical Allele Identifier: CA016441
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 43088
ClinVar RCV Id: RCV001329735 RCV002510774 RCV002513365 RCV003149624
dbSNP Id: rs397516254
MyVariant Identifiers: chr14:g.23883018C>T (hg19) chr14:g.23413809C>T (hg38)
ERepo: CA016441/MONDO:0005021/002
PubMed: PMID:20301606 PMID:22464770 PMID:24503780 PMID:24664454 PMID:29300372
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413809C>T , CM000676.2:g.23413809C>T GRCh38
NC_000014.8:g.23883018C>T , CM000676.1:g.23883018C>T GRCh37
NC_000014.7:g.22952858C>T NCBI36
NG_007884.1:g.26853G>A , LRG_384:g.26853G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.5740G>A MANE Select ENSP00000347507.3:p.Glu1914Lys
ENST00000355349.3:c.5740G>A ENSP00000347507.3:p.Glu1914Lys
NM_000257.3:c.5740G>A NP_000248.2:p.Glu1914Lys
XM_017021340.1:c.5740G>A XP_016876829.1:p.Glu1914Lys
NM_000257.4:c.5740G>A MANE Select NP_000248.2:p.Glu1914Lys
Search 100 bp 5'
Search 100 bp 3'