Canonical Allele Identifier: CA2123463840

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415652G= , CM000676.2:g.23415652G= GRCh38
NC_000014.8:g.23884861G= , CM000676.1:g.23884861G= GRCh37
NC_000014.7:g.22954701G= NCBI36
NG_007884.1:g.25010C= , LRG_384:g.25010C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5134C= (MYH7) MANE Select ENSP00000347507.3:p.Arg1712=
ENST00000355349.3:c.5134C= (MYH7) ENSP00000347507.3:p.Arg1712=
NM_000257.3:c.5134C= (MYH7) NP_000248.2:p.Arg1712=
NR_126491.1:n.84G= (MHRT)
XM_017021340.1:c.5134C= (MYH7) XP_016876829.1:p.Arg1712=
NM_000257.4:c.5134C= (MYH7) MANE Select NP_000248.2:p.Arg1712=