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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:
CA011843
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
42885
ClinVar RCV Id:
RCV000035771
RCV000158837
RCV000201494
RCV000227196
dbSNP Id:
rs121913630
MyVariant Identifiers:
chr14:g.23895023G>C (hg19)
chr14:g.23425814G>C (hg38)
PubMed:
PMID:11113006
PMID:15550524
PMID:17097032
PMID:18020371
PMID:19651039
PMID:20865685
PMID:21769673
PMID:27532257
PMID:29300372
ERepo:
CA011843/MONDO:0005045/002
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23425814G>C , CM000676.2:g.23425814G>C
GRCh38
NC_000014.8:g.23895023G>C , CM000676.1:g.23895023G>C
GRCh37
NC_000014.7:g.22964863G>C
NCBI36
NG_007884.1:g.14848C>G , LRG_384:g.14848C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.2167C>G
MANE Select
ENSP00000347507.3:p.Arg723Gly
ENST00000355349.3:c.2167C>G
ENSP00000347507.3:p.Arg723Gly
NM_000257.3:c.2167C>G
NP_000248.2:p.Arg723Gly
XR_245686.3:n.2273C>G
XM_017021340.1:c.2167C>G
XP_016876829.1:p.Arg723Gly
NM_000257.4:c.2167C>G
MANE Select
NP_000248.2:p.Arg723Gly
Search 100 bp 5'
Search 100 bp 3'