Canonical Allele Identifier: CA774739635

Gene: DLG4 ACADVL

Linked Data

• dbSNP Id: rs1234056234
• gnomAD v3: 17-7219796-T-C
• gnomAD v4: 17-7219796-T-C
• MyVariant Identifiers: chr17:g.7123115T>C (hg19) ; chr17:g.7219796T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219796T>C , CM000679.2:g.7219796T>C	GRCh38
NC_000017.10:g.7123115T>C , CM000679.1:g.7123115T>C	GRCh37
NC_000017.9:g.7063839T>C	NCBI36
NG_007975.1:g.4963T>C
NG_008391.2:g.5255A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399510.8:c.-947A>G (DLG4)	ENSP00000382428.3:n.-947A>G
ENST00000648172.8:c.-947A>G (DLG4)	ENSP00000497806.3:n.-947A>G
ENST00000543245.6:c.132-326T>C (ACADVL)	ENSP00000438689.2:n.132-326T>C
NM_001270447.1:c.132-326T>C (ACADVL)	NP_001257376.1:n.132-326T>C
NM_001365.3:c.-947A>G (DLG4)	NP_001356.1:n.-947A>G
XM_005256489.2:c.-947A>G (DLG4)	XP_005256546.1:n.-947A>G
XM_011523698.1:c.-947A>G (DLG4)	XP_011522000.1:n.-947A>G
XM_011523699.1:c.-217A>G (DLG4)	XP_011522001.1:n.-217A>G
XR_243545.2:n.53A>G (DLG4)
XR_934005.1:n.53A>G (DLG4)
NM_001321074.1:c.-947A>G (DLG4)	NP_001308003.1:n.-947A>G
NM_001365.4:c.-947A>G (DLG4)	NP_001356.1:n.-947A>G
NR_135527.1:n.255A>G (DLG4)
XM_011523699.2:c.-217A>G (DLG4)	XP_011522001.1:n.-217A>G
XR_934005.2:n.47A>G (DLG4)
NM_001270447.2:c.132-326T>C (ACADVL)	NP_001257376.1:n.132-326T>C