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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:
CA635516949
Gene: CHMP4B
HGNC
NCBI
Linked Data
dbSNP Id:
rs1252157610
gnomAD v2:
20-32438689-G-A
gnomAD v3:
20-33850883-G-A
gnomAD v4:
20-33850883-G-A
MyVariant Identifiers:
chr20:g.32438689G>A (hg19)
chr20:g.33850883G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.33850883G>A , CM000682.2:g.33850883G>A
GRCh38
NC_000020.10:g.32438689G>A , CM000682.1:g.32438689G>A
GRCh37
NC_000020.9:g.31902350G>A
NCBI36
NG_015820.1:g.44580G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000217402.3:c.369-69G>A
MANE Select
ENSP00000217402.2:n.369-69G>A
ENST00000217402.2:c.369-69G>A
ENSP00000217402.2:n.369-69G>A
NM_176812.4:c.369-69G>A
NP_789782.1:n.369-69G>A
NM_176812.5:c.369-69G>A
MANE Select
NP_789782.1:n.369-69G>A
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