Canonical Allele Identifier: CA389050819
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1018284
ClinVar RCV Id: RCV001317563
dbSNP Id: rs1892812435
MyVariant Identifiers: chr14:g.23898225G>A (hg19) chr14:g.23429016G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429016G>A , CM000676.2:g.23429016G>A GRCh38
NC_000014.8:g.23898225G>A , CM000676.1:g.23898225G>A GRCh37
NC_000014.7:g.22968065G>A NCBI36
NG_007884.1:g.11646C>T , LRG_384:g.11646C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1346C>T MANE Select ENSP00000347507.3:p.Thr449Ile
ENST00000355349.3:c.1346C>T ENSP00000347507.3:p.Thr449Ile
NM_000257.3:c.1346C>T NP_000248.2:p.Thr449Ile
XR_245686.3:n.1452C>T
XM_017021340.1:c.1346C>T XP_016876829.1:p.Thr449Ile
NM_000257.4:c.1346C>T MANE Select NP_000248.2:p.Thr449Ile
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