Canonical Allele Identifier: CA346141

Gene: DLG4 ACADVL

Linked Data

• ClinVar Variation Id: 180253
• ClinVar RCV Id: RCV000157090 ; RCV000666003 ; RCV003422050
• dbSNP Id: rs730880036
• gnomAD v2: 17-7121058-A-G
• gnomAD v3: 17-7217739-A-G
• gnomAD v4: 17-7217739-A-G
• MyVariant Identifiers: chr17:g.7121058A>G (hg19) ; chr17:g.7217739A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7217739A>G , CM000679.2:g.7217739A>G	GRCh38
NC_000017.10:g.7121058A>G , CM000679.1:g.7121058A>G	GRCh37
NC_000017.9:g.7061782A>G	NCBI36
NG_007975.1:g.2906A>G
NG_008391.2:g.7312T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399510.8:c.159+502T>C (DLG4)	ENSP00000382428.3:n.159+502T>C
ENST00000491753.2:c.159+502T>C (DLG4)	ENSP00000467897.2:n.159+502T>C
ENST00000648172.8:c.159+502T>C (DLG4)	ENSP00000497806.3:n.159+502T>C
ENST00000648707.1:n.65+502T>C (DLG4)
ENST00000399510.6:c.159+502T>C (DLG4)	ENSP00000382428.2:n.159+502T>C
ENST00000543245.6:c.52A>G (ACADVL)	ENSP00000438689.2:p.Ile18Val
NM_001270447.1:c.52A>G (ACADVL)	NP_001257376.1:p.Ile18Val
NM_001365.3:c.159+502T>C (DLG4)	NP_001356.1:n.159+502T>C
XM_005256489.2:c.159+502T>C (DLG4)	XP_005256546.1:n.159+502T>C
XM_011523698.1:c.159+502T>C (DLG4)	XP_011522000.1:n.159+502T>C
XM_011523699.1:c.159+502T>C (DLG4)	XP_011522001.1:n.159+502T>C
XR_243545.2:n.1158+502T>C (DLG4)
XR_934005.1:n.1158+502T>C (DLG4)
NM_001321074.1:c.159+502T>C (DLG4)	NP_001308003.1:n.159+502T>C
NM_001365.4:c.159+502T>C (DLG4)	NP_001356.1:n.159+502T>C
NR_135527.1:n.1360+502T>C (DLG4)
XM_011523699.2:c.159+502T>C (DLG4)	XP_011522001.1:n.159+502T>C
XR_934005.2:n.1152+502T>C (DLG4)
NM_001270447.2:c.52A>G (ACADVL)	NP_001257376.1:p.Ile18Val