Canonical Allele Identifier: CA389042847
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419609C>T , CM000676.2:g.23419609C>T GRCh38
NC_000014.8:g.23888818C>T , CM000676.1:g.23888818C>T GRCh37
NC_000014.7:g.22958658C>T NCBI36
NG_007884.1:g.21053G>A , LRG_384:g.21053G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3727G>A MANE Select ENSP00000347507.3:p.Ala1243Thr
ENST00000355349.3:c.3727G>A ENSP00000347507.3:p.Ala1243Thr
NM_000257.3:c.3727G>A NP_000248.2:p.Ala1243Thr
XM_017021340.1:c.3727G>A XP_016876829.1:p.Ala1243Thr
NM_000257.4:c.3727G>A MANE Select NP_000248.2:p.Ala1243Thr