Canonical Allele Identifier: CA624693513

Gene: DLG4 ACADVL

Linked Data

• dbSNP Id: rs1196009154
• gnomAD v2: 17-7123147-G-A
• gnomAD v4: 17-7219828-G-A
• MyVariant Identifiers: chr17:g.7123147G>A (hg19) ; chr17:g.7219828G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219828G>A , CM000679.2:g.7219828G>A	GRCh38
NC_000017.10:g.7123147G>A , CM000679.1:g.7123147G>A	GRCh37
NC_000017.9:g.7063871G>A	NCBI36
NG_007975.1:g.4995G>A
NG_008391.2:g.5223C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399510.8:c.-979C>T (DLG4)	ENSP00000382428.3:n.-979C>T
ENST00000648172.8:c.-979C>T (DLG4)	ENSP00000497806.3:n.-979C>T
ENST00000356839.9:c.-157G>A (ACADVL)	ENSP00000349297.5:n.-157G>A
ENST00000543245.6:c.132-294G>A (ACADVL)	ENSP00000438689.2:n.132-294G>A
NM_001270447.1:c.132-294G>A (ACADVL)	NP_001257376.1:n.132-294G>A
NM_001365.3:c.-979C>T (DLG4)	NP_001356.1:n.-979C>T
XM_005256489.2:c.-979C>T (DLG4)	XP_005256546.1:n.-979C>T
XM_011523698.1:c.-979C>T (DLG4)	XP_011522000.1:n.-979C>T
XR_243545.2:n.21C>T (DLG4)
XR_934005.1:n.21C>T (DLG4)
NM_001321074.1:c.-979C>T (DLG4)	NP_001308003.1:n.-979C>T
NM_001365.4:c.-979C>T (DLG4)	NP_001356.1:n.-979C>T
NR_135527.1:n.223C>T (DLG4)
XR_934005.2:n.15C>T (DLG4)
NM_001270447.2:c.132-294G>A (ACADVL)	NP_001257376.1:n.132-294G>A