Canonical Allele Identifier: CA015352

Linked Data

ClinVar Variation Id: 43039
dbSNP Id: rs373514686
COSMIC: COSM954747

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416140C>T , CM000676.2:g.23416140C>T GRCh38
NC_000014.8:g.23885349C>T , CM000676.1:g.23885349C>T GRCh37
NC_000014.7:g.22955189C>T NCBI36
NG_007884.1:g.24522G>A , LRG_384:g.24522G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4817G>A (MYH7) MANE Select ENSP00000347507.3:p.Arg1606His
ENST00000355349.3:c.4817G>A (MYH7) ENSP00000347507.3:p.Arg1606His
NM_000257.3:c.4817G>A (MYH7) NP_000248.2:p.Arg1606His
NR_126491.1:n.401C>T (MHRT)
XM_017021340.1:c.4817G>A (MYH7) XP_016876829.1:p.Arg1606His
NM_000257.4:c.4817G>A (MYH7) MANE Select NP_000248.2:p.Arg1606His