Canonical Allele Identifier: CA981151368

Linked Data

dbSNP Id: rs2071091258
gnomAD v3: 17-7219769-G-A
gnomAD v4: 17-7219769-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219769G>A , CM000679.2:g.7219769G>A GRCh38
NC_000017.10:g.7123088G>A , CM000679.1:g.7123088G>A GRCh37
NC_000017.9:g.7063812G>A NCBI36
NG_007975.1:g.4936G>A
NG_008391.2:g.5282C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399510.8:c.-920C>T (DLG4) ENSP00000382428.3:n.-920C>T
ENST00000648172.8:c.-920C>T (DLG4) ENSP00000497806.3:n.-920C>T
ENST00000543245.6:c.132-353G>A (ACADVL) ENSP00000438689.2:n.132-353G>A
NM_001270447.1:c.132-353G>A (ACADVL) NP_001257376.1:n.132-353G>A
NM_001365.3:c.-920C>T (DLG4) NP_001356.1:n.-920C>T
XM_005256489.2:c.-920C>T (DLG4) XP_005256546.1:n.-920C>T
XM_011523698.1:c.-920C>T (DLG4) XP_011522000.1:n.-920C>T
XM_011523699.1:c.-190C>T (DLG4) XP_011522001.1:n.-190C>T
XR_243545.2:n.80C>T (DLG4)
XR_934005.1:n.80C>T (DLG4)
NM_001321074.1:c.-920C>T (DLG4) NP_001308003.1:n.-920C>T
NM_001365.4:c.-920C>T (DLG4) NP_001356.1:n.-920C>T
NR_135527.1:n.282C>T (DLG4)
XM_011523699.2:c.-190C>T (DLG4) XP_011522001.1:n.-190C>T
XR_934005.2:n.74C>T (DLG4)
NM_001270447.2:c.132-353G>A (ACADVL) NP_001257376.1:n.132-353G>A