Canonical Allele Identifier: CA356447

Gene: DVL3 EIF2B5

Linked Data

• ClinVar Variation Id: 219220
• ClinVar RCV Id: RCV000208714 ; RCV000210483 ; RCV003126595
• dbSNP Id: rs869025217
• MyVariant Identifiers: chr3:g.183888106G>A (hg19) ; chr3:g.184170318G>A (hg38)
• PubMed: PMID:26924530

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184170318G>A , CM000665.2:g.184170318G>A	GRCh38
NC_000003.11:g.183888106G>A , CM000665.1:g.183888106G>A	GRCh37
NC_000003.10:g.185370800G>A	NCBI36
NG_046860.1:g.20008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313143.9:c.1715-1G>A (DVL3) MANE Select	ENSP00000316054.3:n.1715-1G>A
ENST00000431765.6:c.1664-1G>A (DVL3)	ENSP00000405885.1:n.1664-1G>A
ENST00000649847.1:c.1041-1G>A (DVL3)	ENSP00000497654.1:n.1041-1G>A
ENST00000313143.7:c.1715-1G>A (DVL3)	ENSP00000316054.3:n.1715-1G>A
ENST00000431765.5:c.1664-1G>A (DVL3)	ENSP00000405885.1:n.1664-1G>A
ENST00000444495.1:c.2106+25611G>A (EIF2B5)	ENSP00000409142.1:n.2106+25611G>A
ENST00000478247.1:n.1715-1G>A (DVL3)
NM_004423.3:c.1715-1G>A (DVL3)	NP_004414.3:n.1715-1G>A
XM_005247172.1:c.1715-1G>A (DVL3)	XP_005247229.1:n.1715-1G>A
XM_011512513.1:c.1211-1G>A (DVL3)	XP_011510815.1:n.1211-1G>A
NM_004423.4:c.1715-1G>A (DVL3) MANE Select	NP_004414.3:n.1715-1G>A
XM_005247172.2:c.1715-1G>A (DVL3)	XP_005247229.1:n.1715-1G>A
XM_011512513.2:c.1211-1G>A (DVL3)	XP_011510815.1:n.1211-1G>A