Canonical Allele Identifier: CA389037448

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416081C>G , CM000676.2:g.23416081C>G GRCh38
NC_000014.8:g.23885290C>G , CM000676.1:g.23885290C>G GRCh37
NC_000014.7:g.22955130C>G NCBI36
NG_007884.1:g.24581G>C , LRG_384:g.24581G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4876G>C (MYH7) MANE Select ENSP00000347507.3:p.Glu1626Gln
ENST00000355349.3:c.4876G>C (MYH7) ENSP00000347507.3:p.Glu1626Gln
NM_000257.3:c.4876G>C (MYH7) NP_000248.2:p.Glu1626Gln
NR_126491.1:n.342C>G (MHRT)
XM_017021340.1:c.4876G>C (MYH7) XP_016876829.1:p.Glu1626Gln
NM_000257.4:c.4876G>C (MYH7) MANE Select NP_000248.2:p.Glu1626Gln