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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:
CA308227530
Gene: DLL3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3010515
ClinVar RCV Id:
RCV003862154
dbSNP Id:
rs769089751
gnomAD v2:
19-39998007-C-T
gnomAD v3:
19-39507367-C-T
gnomAD v4:
19-39507367-C-T
MyVariant Identifiers:
chr19:g.39998007C>T (hg19)
chr19:g.39507367C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.39507367C>T , CM000681.2:g.39507367C>T
GRCh38
NC_000019.9:g.39998007C>T , CM000681.1:g.39998007C>T
GRCh37
NC_000019.8:g.44689847C>T
NCBI36
NG_008256.1:g.13451C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000356433.10:c.1422C>T
MANE Select
ENSP00000348810.4:p.Ser474=
ENST00000205143.4:c.1422C>T
ENSP00000205143.3:p.Ser474=
ENST00000356433.9:c.1422C>T
ENSP00000348810.4:p.Ser474=
NM_016941.3:c.1422C>T
NP_058637.1:p.Ser474=
NM_203486.2:c.1422C>T
NP_982353.1:p.Ser474=
NM_016941.4:c.1422C>T
NP_058637.1:p.Ser474=
NM_203486.3:c.1422C>T
MANE Select
NP_982353.1:p.Ser474=
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