Canonical Allele Identifier: CA389048809
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425724G>T , CM000676.2:g.23425724G>T GRCh38
NC_000014.8:g.23894933G>T , CM000676.1:g.23894933G>T GRCh37
NC_000014.7:g.22964773G>T NCBI36
NG_007884.1:g.14938C>A , LRG_384:g.14938C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2257C>A MANE Select ENSP00000347507.3:p.His753Asn
ENST00000355349.3:c.2257C>A ENSP00000347507.3:p.His753Asn
NM_000257.3:c.2257C>A NP_000248.2:p.His753Asn
XR_245686.3:n.2363C>A
XM_017021340.1:c.2257C>A XP_016876829.1:p.His753Asn
NM_000257.4:c.2257C>A MANE Select NP_000248.2:p.His753Asn