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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
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Canonical Allele Identifier:
CA010639
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
42838
ClinVar RCV Id:
RCV000158800
RCV000195545
RCV000201462
RCV000845295
RCV002381294
dbSNP Id:
rs397516101
gnomAD v3:
14-23429004-C-T
gnomAD v4:
14-23429004-C-T
COSMIC:
COSM4050075
MyVariant Identifiers:
chr14:g.23898213C>T (hg19)
chr14:g.23429004C>T (hg38)
PubMed:
PMID:15858117
PMID:20428263
PMID:20800588
PMID:21835320
PMID:22429680
PMID:23074333
PMID:29300372
ERepo:
CA010639/MONDO:0005045/002
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23429004C>T , CM000676.2:g.23429004C>T
GRCh38
NC_000014.8:g.23898213C>T , CM000676.1:g.23898213C>T
GRCh37
NC_000014.7:g.22968053C>T
NCBI36
NG_007884.1:g.11658G>A , LRG_384:g.11658G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.1358G>A
MANE Select
ENSP00000347507.3:p.Arg453His
ENST00000355349.3:c.1358G>A
ENSP00000347507.3:p.Arg453His
NM_000257.3:c.1358G>A
NP_000248.2:p.Arg453His
XR_245686.3:n.1464G>A
XM_017021340.1:c.1358G>A
XP_016876829.1:p.Arg453His
NM_000257.4:c.1358G>A
MANE Select
NP_000248.2:p.Arg453His
Search 100 bp 5'
Search 100 bp 3'