Canonical Allele Identifier: CA287433274

Gene: DLG4 ACADVL

Linked Data

• dbSNP Id: rs988173181
• gnomAD v2: 17-7123144-C-G
• gnomAD v4: 17-7219825-C-G
• MyVariant Identifiers: chr17:g.7123144C>G (hg19) ; chr17:g.7219825C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219825C>G , CM000679.2:g.7219825C>G	GRCh38
NC_000017.10:g.7123144C>G , CM000679.1:g.7123144C>G	GRCh37
NC_000017.9:g.7063868C>G	NCBI36
NG_007975.1:g.4992C>G
NG_008391.2:g.5226G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399510.8:c.-976G>C (DLG4)	ENSP00000382428.3:n.-976G>C
ENST00000648172.8:c.-976G>C (DLG4)	ENSP00000497806.3:n.-976G>C
ENST00000356839.9:c.-160C>G (ACADVL)	ENSP00000349297.5:n.-160C>G
ENST00000543245.6:c.132-297C>G (ACADVL)	ENSP00000438689.2:n.132-297C>G
NM_001270447.1:c.132-297C>G (ACADVL)	NP_001257376.1:n.132-297C>G
NM_001365.3:c.-976G>C (DLG4)	NP_001356.1:n.-976G>C
XM_005256489.2:c.-976G>C (DLG4)	XP_005256546.1:n.-976G>C
XM_011523698.1:c.-976G>C (DLG4)	XP_011522000.1:n.-976G>C
XR_243545.2:n.24G>C (DLG4)
XR_934005.1:n.24G>C (DLG4)
NM_001321074.1:c.-976G>C (DLG4)	NP_001308003.1:n.-976G>C
NM_001365.4:c.-976G>C (DLG4)	NP_001356.1:n.-976G>C
NR_135527.1:n.226G>C (DLG4)
XR_934005.2:n.18G>C (DLG4)
NM_001270447.2:c.132-297C>G (ACADVL)	NP_001257376.1:n.132-297C>G