This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA010100
Gene: MYH7 HGNC NCBI
ClinVar RCV:
RCV000158780
RCV001192690
ClinVar Variation:
181334
dbSNP:
730880863
MyVariant.info:
GRCh38 chr14:g.23429865A>G
GRCh37 chr14:g.23899074A>G
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429865A>G , CM000676.2:g.23429865A>G GRCh38
NC_000014.8:g.23899074A>G , CM000676.1:g.23899074A>G GRCh37
NC_000014.7:g.22968914A>G NCBI36
NG_007884.1:g.10797T>C , LRG_384:g.10797T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1048T>C MANE Select ENSP00000347507.3:p.Tyr350His
ENST00000355349.3:c.1048T>C ENSP00000347507.3:p.Tyr350His
NM_000257.3:c.1048T>C NP_000248.2:p.Tyr350His
XR_245686.3:n.1154T>C
XM_017021340.1:c.1048T>C XP_016876829.1:p.Tyr350His
NM_000257.4:c.1048T>C MANE Select NP_000248.2:p.Tyr350His
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