Canonical Allele Identifier: CA389052495
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 573829
ClinVar RCV Id: RCV000695599
dbSNP Id: rs1472887126

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431822T>A , CM000676.2:g.23431822T>A GRCh38
NC_000014.8:g.23901031T>A , CM000676.1:g.23901031T>A GRCh37
NC_000014.7:g.22970871T>A NCBI36
NG_007884.1:g.8840A>T , LRG_384:g.8840A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.578A>T MANE Select ENSP00000347507.3:p.Gln193Leu
ENST00000355349.3:c.578A>T ENSP00000347507.3:p.Gln193Leu
NM_000257.3:c.578A>T NP_000248.2:p.Gln193Leu
XR_245686.3:n.684A>T
XM_017021340.1:c.578A>T XP_016876829.1:p.Gln193Leu
NM_000257.4:c.578A>T MANE Select NP_000248.2:p.Gln193Leu