Canonical Allele Identifier: CA344413
Gene: DLL3 HGNC NCBI
ClinVar RCV:
RCV000034281
RCV000250053
RCV000375159
RCV001513176
ClinVar Variation:
41379
COSMIC:
COSM3756785
COSM3756786
dbSNP:
1110627
gnomAD v2:
19:39994711 T / C
gnomAD v3:
19:39504071 T / C
gnomAD v4:
chr19-39504071-T-C
Joint Max Group AF 0.72285303 (AFR)
Genomes Max Group AF 0.71539075 (AFR)
Exomes Max Group AF 0.72738439 (AFR)
MyVariant.info:
GRCh38 chr19:g.39504071T>C
GRCh37 chr19:g.39994711T>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.39504071T>C , CM000681.2:g.39504071T>C GRCh38
NC_000019.9:g.39994711T>C , CM000681.1:g.39994711T>C GRCh37
NC_000019.8:g.44686551T>C NCBI36
NG_008256.1:g.10155T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356433.10:c.653T>C MANE Select ENSP00000348810.4:p.Leu218Pro
ENST00000205143.4:c.653T>C ENSP00000205143.3:p.Leu218Pro
ENST00000356433.9:c.653T>C ENSP00000348810.4:p.Leu218Pro
ENST00000596614.5:c.410-2968T>C ENSP00000471688.1:n.410-2968T>C
ENST00000600437.1:n.733T>C
NM_016941.3:c.653T>C NP_058637.1:p.Leu218Pro
NM_203486.2:c.653T>C NP_982353.1:p.Leu218Pro
NM_016941.4:c.653T>C NP_058637.1:p.Leu218Pro
NM_203486.3:c.653T>C MANE Select NP_982353.1:p.Leu218Pro
Search 100 bp 5'
Search 100 bp 3'