Canonical Allele Identifier: CA16042915
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 372429
dbSNP Id: rs1057517773

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431641C>T , CM000676.2:g.23431641C>T GRCh38
NC_000014.8:g.23900850C>T , CM000676.1:g.23900850C>T GRCh37
NC_000014.7:g.22970690C>T NCBI36
NG_007884.1:g.9021G>A , LRG_384:g.9021G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.676G>A MANE Select ENSP00000347507.3:p.Ala226Thr
ENST00000355349.3:c.676G>A ENSP00000347507.3:p.Ala226Thr
NM_000257.3:c.676G>A NP_000248.2:p.Ala226Thr
XR_245686.3:n.782G>A
XM_017021340.1:c.676G>A XP_016876829.1:p.Ala226Thr
NM_000257.4:c.676G>A MANE Select NP_000248.2:p.Ala226Thr