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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:
CA389050381
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
629544
ClinVar RCV Id:
RCV000774253
dbSNP Id:
rs1566534648
gnomAD v4:
14-23428544-C-T
MyVariant Identifiers:
chr14:g.23897753C>T (hg19)
chr14:g.23428544C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23428544C>T , CM000676.2:g.23428544C>T
GRCh38
NC_000014.8:g.23897753C>T , CM000676.1:g.23897753C>T
GRCh37
NC_000014.7:g.22967593C>T
NCBI36
NG_007884.1:g.12118G>A , LRG_384:g.12118G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.1534G>A
MANE Select
ENSP00000347507.3:p.Asp512Asn
ENST00000355349.3:c.1534G>A
ENSP00000347507.3:p.Asp512Asn
NM_000257.3:c.1534G>A
NP_000248.2:p.Asp512Asn
XR_245686.3:n.1640G>A
XM_017021340.1:c.1534G>A
XP_016876829.1:p.Asp512Asn
NM_000257.4:c.1534G>A
MANE Select
NP_000248.2:p.Asp512Asn
Search 100 bp 5'
Search 100 bp 3'