Canonical Allele Identifier: CA2123448126
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420711C= , CM000676.2:g.23420711C= GRCh38
NC_000014.8:g.23889920C= , CM000676.1:g.23889920C= GRCh37
NC_000014.7:g.22959760C= NCBI36
NG_007884.1:g.19951G= , LRG_384:g.19951G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3336+247G= MANE Select ENSP00000347507.3:n.3336+247G=
ENST00000355349.3:c.3336+247G= ENSP00000347507.3:n.3336+247G=
NM_000257.3:c.3336+247G= NP_000248.2:n.3336+247G=
XR_245686.3:n.3444+247G=
XM_017021340.1:c.3336+247G= XP_016876829.1:n.3336+247G=
NM_000257.4:c.3336+247G= MANE Select NP_000248.2:n.3336+247G=