Canonical Allele Identifier: CA389043445
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420005G>A , CM000676.2:g.23420005G>A GRCh38
NC_000014.8:g.23889214G>A , CM000676.1:g.23889214G>A GRCh37
NC_000014.7:g.22959054G>A NCBI36
NG_007884.1:g.20657C>T , LRG_384:g.20657C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3566C>T MANE Select ENSP00000347507.3:p.Ala1189Val
ENST00000355349.3:c.3566C>T ENSP00000347507.3:p.Ala1189Val
NM_000257.3:c.3566C>T NP_000248.2:p.Ala1189Val
XM_017021340.1:c.3566C>T XP_016876829.1:p.Ala1189Val
NM_000257.4:c.3566C>T MANE Select NP_000248.2:p.Ala1189Val