Canonical Allele Identifier: CA9432246
Gene: DLL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 391971
ClinVar RCV Id: RCV000426077 RCV001257369
dbSNP Id: rs200275281
ExAC: 19:39994719 C / T
gnomAD v2: 19-39994719-C-T
gnomAD v3: 19-39504079-C-T
gnomAD v4: 19-39504079-C-T
COSMIC: COSM996381 COSM3823052
MyVariant Identifiers: chr19:g.39994719C>T (hg19) chr19:g.39504079C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.39504079C>T , CM000681.2:g.39504079C>T GRCh38
NC_000019.9:g.39994719C>T , CM000681.1:g.39994719C>T GRCh37
NC_000019.8:g.44686559C>T NCBI36
NG_008256.1:g.10163C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356433.10:c.661C>T MANE Select ENSP00000348810.4:p.Arg221Ter
ENST00000205143.4:c.661C>T ENSP00000205143.3:p.Arg221Ter
ENST00000356433.9:c.661C>T ENSP00000348810.4:p.Arg221Ter
ENST00000596614.5:c.410-2960C>T ENSP00000471688.1:n.410-2960C>T
ENST00000600437.1:n.741C>T
NM_016941.3:c.661C>T NP_058637.1:p.Arg221Ter
NM_203486.2:c.661C>T NP_982353.1:p.Arg221Ter
NM_016941.4:c.661C>T NP_058637.1:p.Arg221Ter
NM_203486.3:c.661C>T MANE Select NP_982353.1:p.Arg221Ter
Search 100 bp 5'
Search 100 bp 3'