Canonical Allele Identifier: CA10583171
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 237432
ClinVar RCV Id: RCV000226286
dbSNP Id: rs878853836

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429342C>A , CM000676.2:g.23429342C>A GRCh38
NC_000014.8:g.23898551C>A , CM000676.1:g.23898551C>A GRCh37
NC_000014.7:g.22968391C>A NCBI36
NG_007884.1:g.11320G>T , LRG_384:g.11320G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1144G>T MANE Select ENSP00000347507.3:p.Asp382Tyr
ENST00000355349.3:c.1144G>T ENSP00000347507.3:p.Asp382Tyr
NM_000257.3:c.1144G>T NP_000248.2:p.Asp382Tyr
XR_245686.3:n.1250G>T
XM_017021340.1:c.1144G>T XP_016876829.1:p.Asp382Tyr
NM_000257.4:c.1144G>T MANE Select NP_000248.2:p.Asp382Tyr