Canonical Allele Identifier: CA2123465630

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416171A= , CM000676.2:g.23416171A= GRCh38
NC_000014.8:g.23885380A= , CM000676.1:g.23885380A= GRCh37
NC_000014.7:g.22955220A= NCBI36
NG_007884.1:g.24491T= , LRG_384:g.24491T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4786T= (MYH7) MANE Select ENSP00000347507.3:p.Ser1596=
ENST00000355349.3:c.4786T= (MYH7) ENSP00000347507.3:p.Ser1596=
NM_000257.3:c.4786T= (MYH7) NP_000248.2:p.Ser1596=
NR_126491.1:n.432A= (MHRT)
XM_017021340.1:c.4786T= (MYH7) XP_016876829.1:p.Ser1596=
NM_000257.4:c.4786T= (MYH7) MANE Select NP_000248.2:p.Ser1596=