Canonical Allele Identifier: CA389040181

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417558T>G , CM000676.2:g.23417558T>G GRCh38
NC_000014.8:g.23886767T>G , CM000676.1:g.23886767T>G GRCh37
NC_000014.7:g.22956607T>G NCBI36
NG_007884.1:g.23104A>C , LRG_384:g.23104A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4298A>C (MYH7) MANE Select ENSP00000347507.3:p.Glu1433Ala
ENST00000355349.3:c.4298A>C (MYH7) ENSP00000347507.3:p.Glu1433Ala
NM_000257.3:c.4298A>C (MYH7) NP_000248.2:p.Glu1433Ala
NR_126491.1:n.839T>G (MHRT)
XM_017021340.1:c.4298A>C (MYH7) XP_016876829.1:p.Glu1433Ala
NM_000257.4:c.4298A>C (MYH7) MANE Select NP_000248.2:p.Glu1433Ala