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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:
CA315648797
Gene: CD40
HGNC
NCBI
Linked Data
dbSNP Id:
rs887355848
gnomAD v2:
20-44746891-C-T
gnomAD v3:
20-46118252-C-T
gnomAD v4:
20-46118252-C-T
MyVariant Identifiers:
chr20:g.44746891C>T (hg19)
chr20:g.46118252C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46118252C>T , CM000682.2:g.46118252C>T
GRCh38
NC_000020.10:g.44746891C>T , CM000682.1:g.44746891C>T
GRCh37
NC_000020.9:g.44180298C>T
NCBI36
NG_007279.1:g.4986C>T , LRG_40:g.4986C>T
Transcript Alleles
HGVS
Amino-acid change
XM_005260617.2:c.-92C>T
XP_005260674.1:n.-92C>T
XM_005260619.2:c.-92C>T
XP_005260676.1:n.-92C>T
XM_011529109.1:c.-92C>T
XP_011527411.1:n.-92C>T
XR_936660.1:n.3C>T
XM_005260619.3:c.-92C>T
XP_005260676.1:n.-92C>T
XM_011529109.2:c.-92C>T
XP_011527411.1:n.-92C>T
XM_017028135.1:c.-92C>T
XP_016883624.1:n.-92C>T
XM_017028136.1:c.-92C>T
XP_016883625.1:n.-92C>T
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