Canonical Allele Identifier: CA2123450605
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23430992C= , CM000676.2:g.23430992C= GRCh38
NC_000014.8:g.23900201C= , CM000676.1:g.23900201C= GRCh37
NC_000014.7:g.22970041C= NCBI36
NG_007884.1:g.9670G= , LRG_384:g.9670G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.804G= MANE Select ENSP00000347507.3:p.Leu268=
ENST00000355349.3:c.804G= ENSP00000347507.3:p.Leu268=
NM_000257.3:c.804G= NP_000248.2:p.Leu268=
XR_245686.3:n.910G=
XM_017021340.1:c.804G= XP_016876829.1:p.Leu268=
NM_000257.4:c.804G= MANE Select NP_000248.2:p.Leu268=