Canonical Allele Identifier: CA2123445702
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429156A= , CM000676.2:g.23429156A= GRCh38
NC_000014.8:g.23898365A= , CM000676.1:g.23898365A= GRCh37
NC_000014.7:g.22968205A= NCBI36
NG_007884.1:g.11506T= , LRG_384:g.11506T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1258-52T= MANE Select ENSP00000347507.3:n.1258-52T=
ENST00000355349.3:c.1258-52T= ENSP00000347507.3:n.1258-52T=
NM_000257.3:c.1258-52T= NP_000248.2:n.1258-52T=
XR_245686.3:n.1364-52T=
XM_017021340.1:c.1258-52T= XP_016876829.1:n.1258-52T=
NM_000257.4:c.1258-52T= MANE Select NP_000248.2:n.1258-52T=