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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:
CA248813
Gene: DLL4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204373
ClinVar RCV Id:
RCV000190439
RCV000195285
dbSNP Id:
rs796065348
MyVariant Identifiers:
chr15:g.41223862C>T (hg19)
chr15:g.40931664C>T (hg38)
PubMed:
PMID:26299364
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.40931664C>T , CM000677.2:g.40931664C>T
GRCh38
NC_000015.9:g.41223862C>T , CM000677.1:g.41223862C>T
GRCh37
NC_000015.8:g.39011154C>T
NCBI36
NG_046974.1:g.7332C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000249749.7:c.556C>T
MANE Select
ENSP00000249749.5:p.Arg186Cys
ENST00000249749.6:c.556C>T
ENSP00000249749.5:p.Arg186Cys
ENST00000559440.1:n.785C>T
NM_019074.3:c.556C>T
NP_061947.1:p.Arg186Cys
NM_019074.4:c.556C>T
MANE Select
NP_061947.1:p.Arg186Cys
Search 100 bp 5'
Search 100 bp 3'