Canonical Allele Identifier: CA389043953
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420153A>T , CM000676.2:g.23420153A>T GRCh38
NC_000014.8:g.23889362A>T , CM000676.1:g.23889362A>T GRCh37
NC_000014.7:g.22959202A>T NCBI36
NG_007884.1:g.20509T>A , LRG_384:g.20509T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3418T>A MANE Select ENSP00000347507.3:p.Ser1140Thr
ENST00000355349.3:c.3418T>A ENSP00000347507.3:p.Ser1140Thr
NM_000257.3:c.3418T>A NP_000248.2:p.Ser1140Thr
XM_017021340.1:c.3418T>A XP_016876829.1:p.Ser1140Thr
NM_000257.4:c.3418T>A MANE Select NP_000248.2:p.Ser1140Thr