×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA011770
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14105
ClinVar RCV Id:
RCV000015161
RCV000158511
RCV000233499
RCV001170502
dbSNP Id:
rs121913638
MyVariant Identifiers:
chr14:g.23895189C>T (hg19)
chr14:g.23425980C>T (hg38)
PubMed:
PMID:8282798
PMID:9062359
PMID:9874056
PMID:12084606
PMID:12707239
PMID:12975413
PMID:15358028
PMID:18953637
PMID:25935763
PMID:29300372
ERepo:
CA011770/MONDO:0005045/002
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23425980C>T , CM000676.2:g.23425980C>T
GRCh38
NC_000014.8:g.23895189C>T , CM000676.1:g.23895189C>T
GRCh37
NC_000014.7:g.22965029C>T
NCBI36
NG_007884.1:g.14682G>A , LRG_384:g.14682G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.2146G>A
MANE Select
ENSP00000347507.3:p.Gly716Arg
ENST00000355349.3:c.2146G>A
ENSP00000347507.3:p.Gly716Arg
NM_000257.3:c.2146G>A
NP_000248.2:p.Gly716Arg
XR_245686.3:n.2252G>A
XM_017021340.1:c.2146G>A
XP_016876829.1:p.Gly716Arg
NM_000257.4:c.2146G>A
MANE Select
NP_000248.2:p.Gly716Arg
Search 100 bp 5'
Search 100 bp 3'