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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:
CA010092
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14094
ClinVar RCV Id:
RCV000015150
RCV000127019
RCV000621114
RCV000694881
RCV001188427
dbSNP Id:
rs121913640
gnomAD v2:
14-23899076-A-G
gnomAD v3:
14-23429867-A-G
gnomAD v4:
14-23429867-A-G
MyVariant Identifiers:
chr14:g.23899076A>G (hg19)
chr14:g.23429867A>G (hg38)
ERepo:
CA010092/MONDO:0005045/002
PubMed:
PMID:9544842
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23429867A>G , CM000676.2:g.23429867A>G
GRCh38
NC_000014.8:g.23899076A>G , CM000676.1:g.23899076A>G
GRCh37
NC_000014.7:g.22968916A>G
NCBI36
NG_007884.1:g.10795T>C , LRG_384:g.10795T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.1046T>C
MANE Select
ENSP00000347507.3:p.Met349Thr
ENST00000355349.3:c.1046T>C
ENSP00000347507.3:p.Met349Thr
NM_000257.3:c.1046T>C
NP_000248.2:p.Met349Thr
XR_245686.3:n.1152T>C
XM_017021340.1:c.1046T>C
XP_016876829.1:p.Met349Thr
NM_000257.4:c.1046T>C
MANE Select
NP_000248.2:p.Met349Thr
Search 100 bp 5'
Search 100 bp 3'