Canonical Allele Identifier: CA287433230

Gene: DLG4 ACADVL

Linked Data

• dbSNP Id: rs969979537
• gnomAD v4: 17-7219792-T-G
• MyVariant Identifiers: chr17:g.7123111T>G (hg19) ; chr17:g.7219792T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219792T>G , CM000679.2:g.7219792T>G	GRCh38
NC_000017.10:g.7123111T>G , CM000679.1:g.7123111T>G	GRCh37
NC_000017.9:g.7063835T>G	NCBI36
NG_007975.1:g.4959T>G
NG_008391.2:g.5259A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399510.8:c.-943A>C (DLG4)	ENSP00000382428.3:n.-943A>C
ENST00000648172.8:c.-943A>C (DLG4)	ENSP00000497806.3:n.-943A>C
ENST00000543245.6:c.132-330T>G (ACADVL)	ENSP00000438689.2:n.132-330T>G
NM_001270447.1:c.132-330T>G (ACADVL)	NP_001257376.1:n.132-330T>G
NM_001365.3:c.-943A>C (DLG4)	NP_001356.1:n.-943A>C
XM_005256489.2:c.-943A>C (DLG4)	XP_005256546.1:n.-943A>C
XM_011523698.1:c.-943A>C (DLG4)	XP_011522000.1:n.-943A>C
XM_011523699.1:c.-213A>C (DLG4)	XP_011522001.1:n.-213A>C
XR_243545.2:n.57A>C (DLG4)
XR_934005.1:n.57A>C (DLG4)
NM_001321074.1:c.-943A>C (DLG4)	NP_001308003.1:n.-943A>C
NM_001365.4:c.-943A>C (DLG4)	NP_001356.1:n.-943A>C
NR_135527.1:n.259A>C (DLG4)
XM_011523699.2:c.-213A>C (DLG4)	XP_011522001.1:n.-213A>C
XR_934005.2:n.51A>C (DLG4)
NM_001270447.2:c.132-330T>G (ACADVL)	NP_001257376.1:n.132-330T>G