Canonical Allele Identifier: CA287433139

Linked Data

dbSNP Id: rs941922535
gnomAD v3: 17-7219733-G-C
gnomAD v4: 17-7219733-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219733G>C , CM000679.2:g.7219733G>C GRCh38
NC_000017.10:g.7123052G>C , CM000679.1:g.7123052G>C GRCh37
NC_000017.9:g.7063776G>C NCBI36
NG_007975.1:g.4900G>C
NG_008391.2:g.5318C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399510.8:c.-884C>G (DLG4) ENSP00000382428.3:n.-884C>G
ENST00000491753.2:c.-884C>G (DLG4) ENSP00000467897.2:n.-884C>G
ENST00000648172.8:c.-884C>G (DLG4) ENSP00000497806.3:n.-884C>G
ENST00000543245.6:c.132-389G>C (ACADVL) ENSP00000438689.2:n.132-389G>C
NM_001270447.1:c.132-389G>C (ACADVL) NP_001257376.1:n.132-389G>C
NM_001365.3:c.-884C>G (DLG4) NP_001356.1:n.-884C>G
XM_005256489.2:c.-884C>G (DLG4) XP_005256546.1:n.-884C>G
XM_011523698.1:c.-884C>G (DLG4) XP_011522000.1:n.-884C>G
XM_011523699.1:c.-154C>G (DLG4) XP_011522001.1:n.-154C>G
XR_243545.2:n.116C>G (DLG4)
XR_934005.1:n.116C>G (DLG4)
NM_001321074.1:c.-884C>G (DLG4) NP_001308003.1:n.-884C>G
NM_001365.4:c.-884C>G (DLG4) NP_001356.1:n.-884C>G
NR_135527.1:n.318C>G (DLG4)
XM_011523699.2:c.-154C>G (DLG4) XP_011522001.1:n.-154C>G
XR_934005.2:n.110C>G (DLG4)
NM_001270447.2:c.132-389G>C (ACADVL) NP_001257376.1:n.132-389G>C