Canonical Allele Identifier: CA2123456572
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23434064G= , CM000676.2:g.23434064G= GRCh38
NC_000014.8:g.23903273G= , CM000676.1:g.23903273G= GRCh37
NC_000014.7:g.22973113G= NCBI36
NG_007884.1:g.6598C= , LRG_384:g.6598C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-9+130C= MANE Select ENSP00000347507.3:n.-9+130C=
ENST00000355349.3:c.-9+130C= ENSP00000347507.3:n.-9+130C=
NM_000257.3:c.-9+130C= NP_000248.2:n.-9+130C=
XR_245686.3:n.98+130C=
XM_017021340.1:c.-8-324C= XP_016876829.1:n.-8-324C=
NM_000257.4:c.-9+130C= MANE Select NP_000248.2:n.-9+130C=