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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:
CA013417
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
155814
ClinVar RCV Id:
RCV000143923
RCV000158590
RCV000529602
RCV000621026
RCV003149914
dbSNP Id:
rs587782962
ExAC:
14:23891476 C / T
gnomAD v2:
14-23891476-C-T
gnomAD v3:
14-23422267-C-T
gnomAD v4:
14-23422267-C-T
COSMIC:
COSM1216240
MyVariant Identifiers:
chr14:g.23891476C>T (hg19)
chr14:g.23422267C>T (hg38)
PubMed:
PMID:15556047
PMID:20624503
PMID:24888384
PMID:27247418
PMID:27532257
PMID:29300372
ERepo:
CA013417/MONDO:0005045/002
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23422267C>T , CM000676.2:g.23422267C>T
GRCh38
NC_000014.8:g.23891476C>T , CM000676.1:g.23891476C>T
GRCh37
NC_000014.7:g.22961316C>T
NCBI36
NG_007884.1:g.18395G>A , LRG_384:g.18395G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.3158G>A
MANE Select
ENSP00000347507.3:p.Arg1053Gln
ENST00000355349.3:c.3158G>A
ENSP00000347507.3:p.Arg1053Gln
NM_000257.3:c.3158G>A
NP_000248.2:p.Arg1053Gln
XR_245686.3:n.3264G>A
XM_017021340.1:c.3158G>A
XP_016876829.1:p.Arg1053Gln
NM_000257.4:c.3158G>A
MANE Select
NP_000248.2:p.Arg1053Gln
Search 100 bp 5'
Search 100 bp 3'