Canonical Allele Identifier: CA2123465295

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416093G= , CM000676.2:g.23416093G= GRCh38
NC_000014.8:g.23885302G= , CM000676.1:g.23885302G= GRCh37
NC_000014.7:g.22955142G= NCBI36
NG_007884.1:g.24569C= , LRG_384:g.24569C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4864C= (MYH7) MANE Select ENSP00000347507.3:p.Leu1622=
ENST00000355349.3:c.4864C= (MYH7) ENSP00000347507.3:p.Leu1622=
NM_000257.3:c.4864C= (MYH7) NP_000248.2:p.Leu1622=
NR_126491.1:n.354G= (MHRT)
XM_017021340.1:c.4864C= (MYH7) XP_016876829.1:p.Leu1622=
NM_000257.4:c.4864C= (MYH7) MANE Select NP_000248.2:p.Leu1622=