Canonical Allele Identifier: CA016808
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 181324
ClinVar RCV Id: RCV000158763 RCV000620876 RCV001850223
dbSNP Id: rs730880853
MyVariant Identifiers: chr14:g.23900665C>A (hg19) chr14:g.23431456C>A (hg38)
ERepo: CA016808/MONDO:0005045/002
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431456C>A , CM000676.2:g.23431456C>A GRCh38
NC_000014.8:g.23900665C>A , CM000676.1:g.23900665C>A GRCh37
NC_000014.7:g.22970505C>A NCBI36
NG_007884.1:g.9206G>T , LRG_384:g.9206G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.758G>T MANE Select ENSP00000347507.3:p.Gly253Val
ENST00000355349.3:c.758G>T ENSP00000347507.3:p.Gly253Val
NM_000257.3:c.758G>T NP_000248.2:p.Gly253Val
XR_245686.3:n.864G>T
XM_017021340.1:c.758G>T XP_016876829.1:p.Gly253Val
NM_000257.4:c.758G>T MANE Select NP_000248.2:p.Gly253Val
Search 100 bp 5'
Search 100 bp 3'