Canonical Allele Identifier: CA624693503

Linked Data

dbSNP Id: rs1259789105
gnomAD v2: 17-7123056-C-G
gnomAD v3: 17-7219737-C-G
gnomAD v4: 17-7219737-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219737C>G , CM000679.2:g.7219737C>G GRCh38
NC_000017.10:g.7123056C>G , CM000679.1:g.7123056C>G GRCh37
NC_000017.9:g.7063780C>G NCBI36
NG_007975.1:g.4904C>G
NG_008391.2:g.5314G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399510.8:c.-888G>C (DLG4) ENSP00000382428.3:n.-888G>C
ENST00000491753.2:c.-888G>C (DLG4) ENSP00000467897.2:n.-888G>C
ENST00000648172.8:c.-888G>C (DLG4) ENSP00000497806.3:n.-888G>C
ENST00000543245.6:c.132-385C>G (ACADVL) ENSP00000438689.2:n.132-385C>G
NM_001270447.1:c.132-385C>G (ACADVL) NP_001257376.1:n.132-385C>G
NM_001365.3:c.-888G>C (DLG4) NP_001356.1:n.-888G>C
XM_005256489.2:c.-888G>C (DLG4) XP_005256546.1:n.-888G>C
XM_011523698.1:c.-888G>C (DLG4) XP_011522000.1:n.-888G>C
XM_011523699.1:c.-158G>C (DLG4) XP_011522001.1:n.-158G>C
XR_243545.2:n.112G>C (DLG4)
XR_934005.1:n.112G>C (DLG4)
NM_001321074.1:c.-888G>C (DLG4) NP_001308003.1:n.-888G>C
NM_001365.4:c.-888G>C (DLG4) NP_001356.1:n.-888G>C
NR_135527.1:n.314G>C (DLG4)
XM_011523699.2:c.-158G>C (DLG4) XP_011522001.1:n.-158G>C
XR_934005.2:n.106G>C (DLG4)
NM_001270447.2:c.132-385C>G (ACADVL) NP_001257376.1:n.132-385C>G