Canonical Allele Identifier: CA389052591
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 431872
dbSNP Id: rs1555338704

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431862A>T , CM000676.2:g.23431862A>T GRCh38
NC_000014.8:g.23901071A>T , CM000676.1:g.23901071A>T GRCh37
NC_000014.7:g.22970911A>T NCBI36
NG_007884.1:g.8800T>A , LRG_384:g.8800T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.538T>A MANE Select ENSP00000347507.3:p.Ser180Thr
ENST00000355349.3:c.538T>A ENSP00000347507.3:p.Ser180Thr
NM_000257.3:c.538T>A NP_000248.2:p.Ser180Thr
XR_245686.3:n.644T>A
XM_017021340.1:c.538T>A XP_016876829.1:p.Ser180Thr
NM_000257.4:c.538T>A MANE Select NP_000248.2:p.Ser180Thr