Canonical Allele Identifier: CA2123452716
Gene: MYH7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423431A= , CM000676.2:g.23423431A= GRCh38
NC_000014.8:g.23892640A= , CM000676.1:g.23892640A= GRCh37
NC_000014.7:g.22962480A= NCBI36
NG_007884.1:g.17231T= , LRG_384:g.17231T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+116T= MANE Select ENSP00000347507.3:n.3099+116T=
ENST00000355349.3:c.3099+116T= ENSP00000347507.3:n.3099+116T=
NM_000257.3:c.3099+116T= NP_000248.2:n.3099+116T=
XR_245686.3:n.3205+116T=
XM_017021340.1:c.3099+116T= XP_016876829.1:n.3099+116T=
NM_000257.4:c.3099+116T= MANE Select NP_000248.2:n.3099+116T=