Canonical Allele Identifier: CA2123444274
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23428645A= , CM000676.2:g.23428645A= GRCh38
NC_000014.8:g.23897854A= , CM000676.1:g.23897854A= GRCh37
NC_000014.7:g.22967694A= NCBI36
NG_007884.1:g.12017T= , LRG_384:g.12017T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1433T= MANE Select ENSP00000347507.3:p.Ile478=
ENST00000355349.3:c.1433T= ENSP00000347507.3:p.Ile478=
NM_000257.3:c.1433T= NP_000248.2:p.Ile478=
XR_245686.3:n.1539T=
XM_017021340.1:c.1433T= XP_016876829.1:p.Ile478=
NM_000257.4:c.1433T= MANE Select NP_000248.2:p.Ile478=