Canonical Allele Identifier: CA389052176
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1329416
ClinVar RCV Id: RCV001799459
dbSNP Id: rs267606910
MyVariant Identifiers: chr14:g.23900798C>A (hg19) chr14:g.23431589C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431589C>A , CM000676.2:g.23431589C>A GRCh38
NC_000014.8:g.23900798C>A , CM000676.1:g.23900798C>A GRCh37
NC_000014.7:g.22970638C>A NCBI36
NG_007884.1:g.9073G>T , LRG_384:g.9073G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.728G>T MANE Select ENSP00000347507.3:p.Arg243Leu
ENST00000355349.3:c.728G>T ENSP00000347507.3:p.Arg243Leu
NM_000257.3:c.728G>T NP_000248.2:p.Arg243Leu
XR_245686.3:n.834G>T
XM_017021340.1:c.728G>T XP_016876829.1:p.Arg243Leu
NM_000257.4:c.728G>T MANE Select NP_000248.2:p.Arg243Leu
Search 100 bp 5'
Search 100 bp 3'