Canonical Allele Identifier: CA389040252

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417578C>A , CM000676.2:g.23417578C>A GRCh38
NC_000014.8:g.23886787C>A , CM000676.1:g.23886787C>A GRCh37
NC_000014.7:g.22956627C>A NCBI36
NG_007884.1:g.23084G>T , LRG_384:g.23084G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4278G>T (MYH7) MANE Select ENSP00000347507.3:p.Glu1426Asp
ENST00000355349.3:c.4278G>T (MYH7) ENSP00000347507.3:p.Glu1426Asp
NM_000257.3:c.4278G>T (MYH7) NP_000248.2:p.Glu1426Asp
NR_126491.1:n.859C>A (MHRT)
XM_017021340.1:c.4278G>T (MYH7) XP_016876829.1:p.Glu1426Asp
NM_000257.4:c.4278G>T (MYH7) MANE Select NP_000248.2:p.Glu1426Asp