Canonical Allele Identifier: CA013375
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42948
dbSNP Id: rs397516178

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422291C>A , CM000676.2:g.23422291C>A GRCh38
NC_000014.8:g.23891500C>A , CM000676.1:g.23891500C>A GRCh37
NC_000014.7:g.22961340C>A NCBI36
NG_007884.1:g.18371G>T , LRG_384:g.18371G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3134G>T MANE Select ENSP00000347507.3:p.Arg1045Leu
ENST00000355349.3:c.3134G>T ENSP00000347507.3:p.Arg1045Leu
NM_000257.3:c.3134G>T NP_000248.2:p.Arg1045Leu
XR_245686.3:n.3240G>T
XM_017021340.1:c.3134G>T XP_016876829.1:p.Arg1045Leu
NM_000257.4:c.3134G>T MANE Select NP_000248.2:p.Arg1045Leu