Canonical Allele Identifier: CA389047311
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2793440
ClinVar RCV Id: RCV003749197

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424119G>T , CM000676.2:g.23424119G>T GRCh38
NC_000014.8:g.23893328G>T , CM000676.1:g.23893328G>T GRCh37
NC_000014.7:g.22963168G>T NCBI36
NG_007884.1:g.16543C>A , LRG_384:g.16543C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2710C>A MANE Select ENSP00000347507.3:p.Arg904Ser
ENST00000355349.3:c.2710C>A ENSP00000347507.3:p.Arg904Ser
NM_000257.3:c.2710C>A NP_000248.2:p.Arg904Ser
XR_245686.3:n.2816C>A
XM_017021340.1:c.2710C>A XP_016876829.1:p.Arg904Ser
NM_000257.4:c.2710C>A MANE Select NP_000248.2:p.Arg904Ser