Canonical Allele Identifier: CA9432245

Gene: DLL3

Linked Data

• ClinVar Variation Id: 1021745
• ClinVar RCV Id: RCV001321559
• dbSNP Id: rs200275281
• ExAC: 19:39994719 C / G
• gnomAD v2: 19-39994719-C-G
• gnomAD v3: 19-39504079-C-G
• gnomAD v4: 19-39504079-C-G
• COSMIC: COSM4988572 ; COSM4988573
• MyVariant Identifiers: chr19:g.39994719C>G (hg19) ; chr19:g.39504079C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356433.10:c.661C>G MANE Select	ENSP00000348810.4:p.Arg221Gly
ENST00000205143.4:c.661C>G	ENSP00000205143.3:p.Arg221Gly
ENST00000356433.9:c.661C>G	ENSP00000348810.4:p.Arg221Gly
ENST00000596614.5:c.410-2960C>G	ENSP00000471688.1:n.410-2960C>G
ENST00000600437.1:n.741C>G
NM_016941.3:c.661C>G	NP_058637.1:p.Arg221Gly
NM_203486.2:c.661C>G	NP_982353.1:p.Arg221Gly
NM_016941.4:c.661C>G	NP_058637.1:p.Arg221Gly
NM_203486.3:c.661C>G MANE Select	NP_982353.1:p.Arg221Gly