Canonical Allele Identifier: CA010273
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 179272
ClinVar RCV Id: RCV000156061 RCV000850503 RCV001727606
dbSNP Id: rs727504753
MyVariant Identifiers: chr14:g.23898554C>T (hg19) chr14:g.23429345C>T (hg38)
ERepo: CA010273/MONDO:0005045/002
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429345C>T , CM000676.2:g.23429345C>T GRCh38
NC_000014.8:g.23898554C>T , CM000676.1:g.23898554C>T GRCh37
NC_000014.7:g.22968394C>T NCBI36
NG_007884.1:g.11317G>A , LRG_384:g.11317G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1141G>A MANE Select ENSP00000347507.3:p.Ala381Thr
ENST00000355349.3:c.1141G>A ENSP00000347507.3:p.Ala381Thr
NM_000257.3:c.1141G>A NP_000248.2:p.Ala381Thr
XR_245686.3:n.1247G>A
XM_017021340.1:c.1141G>A XP_016876829.1:p.Ala381Thr
NM_000257.4:c.1141G>A MANE Select NP_000248.2:p.Ala381Thr
Search 100 bp 5'
Search 100 bp 3'