Canonical Allele Identifier: CA2123466161

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416298G= , CM000676.2:g.23416298G= GRCh38
NC_000014.8:g.23885507G= , CM000676.1:g.23885507G= GRCh37
NC_000014.7:g.22955347G= NCBI36
NG_007884.1:g.24364C= , LRG_384:g.24364C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4659C= (MYH7) MANE Select ENSP00000347507.3:p.His1553=
ENST00000355349.3:c.4659C= (MYH7) ENSP00000347507.3:p.His1553=
NM_000257.3:c.4659C= (MYH7) NP_000248.2:p.His1553=
NR_126491.1:n.558+1G= (MHRT)
XM_017021340.1:c.4659C= (MYH7) XP_016876829.1:p.His1553=
NM_000257.4:c.4659C= (MYH7) MANE Select NP_000248.2:p.His1553=