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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:
CA013367
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
177753
ClinVar RCV Id:
RCV000628877
RCV000658686
RCV001170267
RCV001537864
RCV002321635
RCV003416006
dbSNP Id:
rs45611033
ExAC:
14:23891501 G / A
gnomAD v2:
14-23891501-G-A
gnomAD v3:
14-23422292-G-A
gnomAD v4:
14-23422292-G-A
MyVariant Identifiers:
chr14:g.23891501G>A (hg19)
chr14:g.23422292G>A (hg38)
ERepo:
CA013367/MONDO:0005045/002
PubMed:
PMID:17394955
PMID:18533079
PMID:19412328
PMID:20215591
PMID:21483645
PMID:21832052
PMID:29300372
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23422292G>A , CM000676.2:g.23422292G>A
GRCh38
NC_000014.8:g.23891501G>A , CM000676.1:g.23891501G>A
GRCh37
NC_000014.7:g.22961341G>A
NCBI36
NG_007884.1:g.18370C>T , LRG_384:g.18370C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.3133C>T
MANE Select
ENSP00000347507.3:p.Arg1045Cys
ENST00000355349.3:c.3133C>T
ENSP00000347507.3:p.Arg1045Cys
NM_000257.3:c.3133C>T
NP_000248.2:p.Arg1045Cys
XR_245686.3:n.3239C>T
XM_017021340.1:c.3133C>T
XP_016876829.1:p.Arg1045Cys
NM_000257.4:c.3133C>T
MANE Select
NP_000248.2:p.Arg1045Cys
Search 100 bp 5'
Search 100 bp 3'