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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:
CA012022
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
177665
ClinVar RCV Id:
RCV000158523
RCV000619837
RCV000678722
dbSNP Id:
rs121913632
gnomAD v3:
14-23425760-C-A
gnomAD v4:
14-23425760-C-A
MyVariant Identifiers:
chr14:g.23894969C>A (hg19)
chr14:g.23425760C>A (hg38)
PubMed:
PMID:8483915
PMID:8533830
PMID:12707239
PMID:15358028
PMID:15563892
PMID:15856146
PMID:22429680
PMID:23074333
PMID:24093860
PMID:25351510
PMID:26914223
PMID:27247418
PMID:29300372
ERepo:
CA012022/MONDO:0005045/002
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23425760C>A , CM000676.2:g.23425760C>A
GRCh38
NC_000014.8:g.23894969C>A , CM000676.1:g.23894969C>A
GRCh37
NC_000014.7:g.22964809C>A
NCBI36
NG_007884.1:g.14902G>T , LRG_384:g.14902G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.2221G>T
MANE Select
ENSP00000347507.3:p.Gly741Trp
ENST00000355349.3:c.2221G>T
ENSP00000347507.3:p.Gly741Trp
NM_000257.3:c.2221G>T
NP_000248.2:p.Gly741Trp
XR_245686.3:n.2327G>T
XM_017021340.1:c.2221G>T
XP_016876829.1:p.Gly741Trp
NM_000257.4:c.2221G>T
MANE Select
NP_000248.2:p.Gly741Trp
Search 100 bp 5'
Search 100 bp 3'