Canonical Allele Identifier: CA2123446658
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429608G= , CM000676.2:g.23429608G= GRCh38
NC_000014.8:g.23898817G= , CM000676.1:g.23898817G= GRCh37
NC_000014.7:g.22968657G= NCBI36
NG_007884.1:g.11054C= , LRG_384:g.11054C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1138+167C= MANE Select ENSP00000347507.3:n.1138+167C=
ENST00000355349.3:c.1138+167C= ENSP00000347507.3:n.1138+167C=
NM_000257.3:c.1138+167C= NP_000248.2:n.1138+167C=
XR_245686.3:n.1244+167C=
XM_017021340.1:c.1138+167C= XP_016876829.1:n.1138+167C=
NM_000257.4:c.1138+167C= MANE Select NP_000248.2:n.1138+167C=