Canonical Allele Identifier: CA2123450630
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23430997G= , CM000676.2:g.23430997G= GRCh38
NC_000014.8:g.23900206G= , CM000676.1:g.23900206G= GRCh37
NC_000014.7:g.22970046G= NCBI36
NG_007884.1:g.9665C= , LRG_384:g.9665C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.799C= MANE Select ENSP00000347507.3:p.Leu267=
ENST00000355349.3:c.799C= ENSP00000347507.3:p.Leu267=
NM_000257.3:c.799C= NP_000248.2:p.Leu267=
XR_245686.3:n.905C=
XM_017021340.1:c.799C= XP_016876829.1:p.Leu267=
NM_000257.4:c.799C= MANE Select NP_000248.2:p.Leu267=