Canonical Allele Identifier: CA2123443420
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23428446G= , CM000676.2:g.23428446G= GRCh38
NC_000014.8:g.23897655G= , CM000676.1:g.23897655G= GRCh37
NC_000014.7:g.22967495G= NCBI36
NG_007884.1:g.12216C= , LRG_384:g.12216C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1578+54C= MANE Select ENSP00000347507.3:n.1578+54C=
ENST00000355349.3:c.1578+54C= ENSP00000347507.3:n.1578+54C=
NM_000257.3:c.1578+54C= NP_000248.2:n.1578+54C=
XR_245686.3:n.1684+54C=
XM_017021340.1:c.1578+54C= XP_016876829.1:n.1578+54C=
NM_000257.4:c.1578+54C= MANE Select NP_000248.2:n.1578+54C=