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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:
CA011011
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14108
ClinVar RCV Id:
RCV000015164
RCV000211832
RCV000688025
dbSNP Id:
rs121913642
gnomAD v4:
14-23427879-A-G
MyVariant Identifiers:
chr14:g.23897088A>G (hg19)
chr14:g.23427879A>G (hg38)
PubMed:
PMID:11106718
PMID:16983074
PMID:17351073
PMID:23313350
PMID:29300372
ERepo:
CA011011/MONDO:0005021/002
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23427879A>G , CM000676.2:g.23427879A>G
GRCh38
NC_000014.8:g.23897088A>G , CM000676.1:g.23897088A>G
GRCh37
NC_000014.7:g.22966928A>G
NCBI36
NG_007884.1:g.12783T>C , LRG_384:g.12783T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.1594T>C
MANE Select
ENSP00000347507.3:p.Ser532Pro
ENST00000355349.3:c.1594T>C
ENSP00000347507.3:p.Ser532Pro
NM_000257.3:c.1594T>C
NP_000248.2:p.Ser532Pro
XR_245686.3:n.1700T>C
XM_017021340.1:c.1594T>C
XP_016876829.1:p.Ser532Pro
NM_000257.4:c.1594T>C
MANE Select
NP_000248.2:p.Ser532Pro
Search 100 bp 5'
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