Canonical Allele Identifier: CA351836
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 222720
ClinVar RCV Id: RCV000208181
dbSNP Id: rs869025476
MyVariant Identifiers: chr14:g.23901073T>G (hg19) chr14:g.23431864T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431864T>G , CM000676.2:g.23431864T>G GRCh38
NC_000014.8:g.23901073T>G , CM000676.1:g.23901073T>G GRCh37
NC_000014.7:g.22970913T>G NCBI36
NG_007884.1:g.8798A>C , LRG_384:g.8798A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.536A>C MANE Select ENSP00000347507.3:p.Glu179Ala
ENST00000355349.3:c.536A>C ENSP00000347507.3:p.Glu179Ala
NM_000257.3:c.536A>C NP_000248.2:p.Glu179Ala
XR_245686.3:n.642A>C
XM_017021340.1:c.536A>C XP_016876829.1:p.Glu179Ala
NM_000257.4:c.536A>C MANE Select NP_000248.2:p.Glu179Ala
Search 100 bp 5'
Search 100 bp 3'