Canonical Allele Identifier: CA2123458415
Community Standard Title: NM_000257.4(MYH7):c.2212A= (p.Ser738=)
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425769T= , CM000676.2:g.23425769T= GRCh38
NC_000014.8:g.23894978T= , CM000676.1:g.23894978T= GRCh37
NC_000014.7:g.22964818T= NCBI36
NG_007884.1:g.14893A= , LRG_384:g.14893A=

Transcript Alleles

HGVS Amino-acid Change
NM_000257.4:c.2212A= MANE Select NP_000248.2:p.Ser738=
ENST00000355349.4:c.2212A= MANE Select ENSP00000347507.3:p.Ser738=
NM_000257.3:c.2212A= NP_000248.2:p.Ser738=
ENST00000355349.3:c.2212A= ENSP00000347507.3:p.Ser738=
XM_017021340.1:c.2212A= XP_016876829.1:p.Ser738=
XR_245686.3:n.2318A=