Canonical Allele Identifier: CA015595

Linked Data

ClinVar Variation Id: 181393
dbSNP Id: rs730880914
COSMIC: COSM245863

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415756C>T , CM000676.2:g.23415756C>T GRCh38
NC_000014.8:g.23884965C>T , CM000676.1:g.23884965C>T GRCh37
NC_000014.7:g.22954805C>T NCBI36
NG_007884.1:g.24906G>A , LRG_384:g.24906G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5030G>A (MYH7) MANE Select ENSP00000347507.3:p.Arg1677His
ENST00000355349.3:c.5030G>A (MYH7) ENSP00000347507.3:p.Arg1677His
NM_000257.3:c.5030G>A (MYH7) NP_000248.2:p.Arg1677His
NR_126491.1:n.188C>T (MHRT)
XM_017021340.1:c.5030G>A (MYH7) XP_016876829.1:p.Arg1677His
NM_000257.4:c.5030G>A (MYH7) MANE Select NP_000248.2:p.Arg1677His