Canonical Allele Identifier: CA389052497
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2501805
ClinVar RCV Id: RCV003228224 RCV003586397
dbSNP Id: rs1472887126
MyVariant Identifiers: chr14:g.23901031T>C (hg19) chr14:g.23431822T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431822T>C , CM000676.2:g.23431822T>C GRCh38
NC_000014.8:g.23901031T>C , CM000676.1:g.23901031T>C GRCh37
NC_000014.7:g.22970871T>C NCBI36
NG_007884.1:g.8840A>G , LRG_384:g.8840A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.578A>G MANE Select ENSP00000347507.3:p.Gln193Arg
ENST00000355349.3:c.578A>G ENSP00000347507.3:p.Gln193Arg
NM_000257.3:c.578A>G NP_000248.2:p.Gln193Arg
XR_245686.3:n.684A>G
XM_017021340.1:c.578A>G XP_016876829.1:p.Gln193Arg
NM_000257.4:c.578A>G MANE Select NP_000248.2:p.Gln193Arg
Search 100 bp 5'
Search 100 bp 3'