Canonical Allele Identifier: CA2123441383
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23427584C= , CM000676.2:g.23427584C= GRCh38
NC_000014.8:g.23896793C= , CM000676.1:g.23896793C= GRCh37
NC_000014.7:g.22966633C= NCBI36
NG_007884.1:g.13078G= , LRG_384:g.13078G=

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.1888+1G= MANE Select ENSP00000347507.3:n.1888+1G=
ENST00000355349.3:c.1888+1G= ENSP00000347507.3:n.1888+1G=
NM_000257.3:c.1888+1G= NP_000248.2:n.1888+1G=
XR_245686.3:n.1994+1G=
XM_017021340.1:c.1888+1G= XP_016876829.1:n.1888+1G=
NM_000257.4:c.1888+1G= MANE Select NP_000248.2:n.1888+1G=