Canonical Allele Identifier: CA011785
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 14107
ClinVar RCV Id: RCV000015163 RCV000158513 RCV000250394 RCV000468000
dbSNP Id: rs121913641
MyVariant Identifiers: chr14:g.23895179C>T (hg19) chr14:g.23425970C>T (hg38)
PubMed: PMID:1552912 PMID:7848441 PMID:9829907 PMID:10521296 PMID:11498078 PMID:12473556 PMID:12707239 PMID:15358028 PMID:16199542 PMID:18403758 PMID:18409188 PMID:18411228 PMID:20309391 PMID:20624503 PMID:20800588 PMID:21896538 PMID:24093860 PMID:25351510 PMID:27247418 PMID:27483260 PMID:29300372
ERepo: CA011785/MONDO:0005045/002
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425970C>T , CM000676.2:g.23425970C>T GRCh38
NC_000014.8:g.23895179C>T , CM000676.1:g.23895179C>T GRCh37
NC_000014.7:g.22965019C>T NCBI36
NG_007884.1:g.14692G>A , LRG_384:g.14692G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2156G>A MANE Select ENSP00000347507.3:p.Arg719Gln
ENST00000355349.3:c.2156G>A ENSP00000347507.3:p.Arg719Gln
NM_000257.3:c.2156G>A NP_000248.2:p.Arg719Gln
XR_245686.3:n.2262G>A
XM_017021340.1:c.2156G>A XP_016876829.1:p.Arg719Gln
NM_000257.4:c.2156G>A MANE Select NP_000248.2:p.Arg719Gln
Search 100 bp 5'
Search 100 bp 3'