Canonical Allele Identifier: CA2123446537
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420023A= , CM000676.2:g.23420023A= GRCh38
NC_000014.8:g.23889232A= , CM000676.1:g.23889232A= GRCh37
NC_000014.7:g.22959072A= NCBI36
NG_007884.1:g.20639T= , LRG_384:g.20639T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3548T= MANE Select ENSP00000347507.3:p.Leu1183=
ENST00000355349.3:c.3548T= ENSP00000347507.3:p.Leu1183=
NM_000257.3:c.3548T= NP_000248.2:p.Leu1183=
XM_017021340.1:c.3548T= XP_016876829.1:p.Leu1183=
NM_000257.4:c.3548T= MANE Select NP_000248.2:p.Leu1183=