Canonical Allele Identifier: CA389052557
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1172468
dbSNP Id: rs2138682451

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431846G>A , CM000676.2:g.23431846G>A GRCh38
NC_000014.8:g.23901055G>A , CM000676.1:g.23901055G>A GRCh37
NC_000014.7:g.22970895G>A NCBI36
NG_007884.1:g.8816C>T , LRG_384:g.8816C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.554C>T MANE Select ENSP00000347507.3:p.Thr185Ile
ENST00000355349.3:c.554C>T ENSP00000347507.3:p.Thr185Ile
NM_000257.3:c.554C>T NP_000248.2:p.Thr185Ile
XR_245686.3:n.660C>T
XM_017021340.1:c.554C>T XP_016876829.1:p.Thr185Ile
NM_000257.4:c.554C>T MANE Select NP_000248.2:p.Thr185Ile