Canonical Allele Identifier: CA389046609
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423917G>A , CM000676.2:g.23423917G>A GRCh38
NC_000014.8:g.23893126G>A , CM000676.1:g.23893126G>A GRCh37
NC_000014.7:g.22962966G>A NCBI36
NG_007884.1:g.16745C>T , LRG_384:g.16745C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2912C>T MANE Select ENSP00000347507.3:p.Thr971Ile
ENST00000355349.3:c.2912C>T ENSP00000347507.3:p.Thr971Ile
NM_000257.3:c.2912C>T NP_000248.2:p.Thr971Ile
XR_245686.3:n.3018C>T
XM_017021340.1:c.2912C>T XP_016876829.1:p.Thr971Ile
NM_000257.4:c.2912C>T MANE Select NP_000248.2:p.Thr971Ile