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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:
CA012732
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161326
ClinVar RCV Id:
RCV001189961
RCV001261972
RCV002433640
RCV002483292
dbSNP Id:
rs138049878
ExAC:
14:23894049 G / A
gnomAD v2:
14-23894049-G-A
gnomAD v3:
14-23424840-G-A
gnomAD v4:
14-23424840-G-A
MyVariant Identifiers:
chr14:g.23894049G>A (hg19)
chr14:g.23424840G>A (hg38)
PubMed:
PMID:10862102
PMID:12975413
PMID:22112859
PMID:23299917
PMID:24621997
PMID:25637381
PMID:27247418
PMID:29300372
ERepo:
CA012732/MONDO:0005045/002
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23424840G>A , CM000676.2:g.23424840G>A
GRCh38
NC_000014.8:g.23894049G>A , CM000676.1:g.23894049G>A
GRCh37
NC_000014.7:g.22963889G>A
NCBI36
NG_007884.1:g.15822C>T , LRG_384:g.15822C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.2608C>T
MANE Select
ENSP00000347507.3:p.Arg870Cys
ENST00000355349.3:c.2608C>T
ENSP00000347507.3:p.Arg870Cys
NM_000257.3:c.2608C>T
NP_000248.2:p.Arg870Cys
XR_245686.3:n.2714C>T
XM_017021340.1:c.2608C>T
XP_016876829.1:p.Arg870Cys
NM_000257.4:c.2608C>T
MANE Select
NP_000248.2:p.Arg870Cys
Search 100 bp 5'
Search 100 bp 3'