Canonical Allele Identifier: CA287433156

Gene: DLG4 ACADVL

Linked Data

• ClinVar Variation Id: 1214579
• ClinVar RCV Id: RCV001583669
• dbSNP Id: rs9915319
• gnomAD v2: 17-7123058-A-G
• gnomAD v3: 17-7219739-A-G
• gnomAD v4: 17-7219739-A-G
• MyVariant Identifiers: chr17:g.7123058A>G (hg19) ; chr17:g.7219739A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219739A>G , CM000679.2:g.7219739A>G	GRCh38
NC_000017.10:g.7123058A>G , CM000679.1:g.7123058A>G	GRCh37
NC_000017.9:g.7063782A>G	NCBI36
NG_007975.1:g.4906A>G
NG_008391.2:g.5312T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399510.8:c.-890T>C (DLG4)	ENSP00000382428.3:n.-890T>C
ENST00000648172.8:c.-890T>C (DLG4)	ENSP00000497806.3:n.-890T>C
ENST00000543245.6:c.132-383A>G (ACADVL)	ENSP00000438689.2:n.132-383A>G
NM_001270447.1:c.132-383A>G (ACADVL)	NP_001257376.1:n.132-383A>G
NM_001365.3:c.-890T>C (DLG4)	NP_001356.1:n.-890T>C
XM_005256489.2:c.-890T>C (DLG4)	XP_005256546.1:n.-890T>C
XM_011523698.1:c.-890T>C (DLG4)	XP_011522000.1:n.-890T>C
XM_011523699.1:c.-160T>C (DLG4)	XP_011522001.1:n.-160T>C
XR_243545.2:n.110T>C (DLG4)
XR_934005.1:n.110T>C (DLG4)
NM_001321074.1:c.-890T>C (DLG4)	NP_001308003.1:n.-890T>C
NM_001365.4:c.-890T>C (DLG4)	NP_001356.1:n.-890T>C
NR_135527.1:n.312T>C (DLG4)
XM_011523699.2:c.-160T>C (DLG4)	XP_011522001.1:n.-160T>C
XR_934005.2:n.104T>C (DLG4)
NM_001270447.2:c.132-383A>G (ACADVL)	NP_001257376.1:n.132-383A>G