Canonical Allele Identifier: CA389043878
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420130G>T , CM000676.2:g.23420130G>T GRCh38
NC_000014.8:g.23889339G>T , CM000676.1:g.23889339G>T GRCh37
NC_000014.7:g.22959179G>T NCBI36
NG_007884.1:g.20532C>A , LRG_384:g.20532C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3441C>A MANE Select ENSP00000347507.3:p.Ser1147Arg
ENST00000355349.3:c.3441C>A ENSP00000347507.3:p.Ser1147Arg
NM_000257.3:c.3441C>A NP_000248.2:p.Ser1147Arg
XM_017021340.1:c.3441C>A XP_016876829.1:p.Ser1147Arg
NM_000257.4:c.3441C>A MANE Select NP_000248.2:p.Ser1147Arg