Canonical Allele Identifier: CA015871
Gene: MYH7 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14128
ClinVar RCV Id: RCV000015189
dbSNP Id: rs267606909

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415258C>T , CM000676.2:g.23415258C>T GRCh38
NC_000014.8:g.23884467C>T , CM000676.1:g.23884467C>T GRCh37
NC_000014.7:g.22954307C>T NCBI36
NG_007884.1:g.25404G>A , LRG_384:g.25404G>A

Transcript Alleles

HGVS Amino-acid change
NM_000257.3:c.5296G>A VV NP_000248.2:p.Ala1766Thr
XM_017021340.1:c.5296G>A XP_016876829.1:p.Ala1766Thr
NM_000257.4:c.5296G>A VV MANE Preferred NP_000248.2:p.Ala1766Thr
ENST00000355349.3:c.5296G>A ENSP00000347507.3:p.Ala1766Thr