Canonical Allele Identifier: CA389045348
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 3072044
ClinVar RCV Id: RCV004012074

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422267C>A , CM000676.2:g.23422267C>A GRCh38
NC_000014.8:g.23891476C>A , CM000676.1:g.23891476C>A GRCh37
NC_000014.7:g.22961316C>A NCBI36
NG_007884.1:g.18395G>T , LRG_384:g.18395G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3158G>T MANE Select ENSP00000347507.3:p.Arg1053Leu
ENST00000355349.3:c.3158G>T ENSP00000347507.3:p.Arg1053Leu
NM_000257.3:c.3158G>T NP_000248.2:p.Arg1053Leu
XR_245686.3:n.3264G>T
XM_017021340.1:c.3158G>T XP_016876829.1:p.Arg1053Leu
NM_000257.4:c.3158G>T MANE Select NP_000248.2:p.Arg1053Leu