Canonical Allele Identifier: CA8336980
Gene: DLG4 HGNC NCBI

Linked Data

dbSNP Id: rs114403556
gnomAD v2: 17-7097847-G-A
gnomAD v3: 17-7194528-G-A
gnomAD v4: 17-7194528-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7194528G>A , CM000679.2:g.7194528G>A GRCh38
NC_000017.10:g.7097847G>A , CM000679.1:g.7097847G>A GRCh37
NC_000017.9:g.7038571G>A NCBI36
NG_008391.2:g.30523C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000648103.2:n.1562-33C>T
ENST00000302955.11:c.1293-33C>T ENSP00000307471.6:n.1293-33C>T
ENST00000399506.9:c.1302-33C>T MANE Select ENSP00000382425.2:n.1302-33C>T
ENST00000399510.8:c.1422-33C>T ENSP00000382428.3:n.1422-33C>T
ENST00000491753.2:c.1431-33C>T ENSP00000467897.2:n.1431-33C>T
ENST00000648103.1:n.272-33C>T
ENST00000648172.8:c.1431-33C>T ENSP00000497806.3:n.1431-33C>T
ENST00000648263.1:c.1122-33C>T ENSP00000498035.1:n.1122-33C>T
ENST00000648707.1:n.1337-33C>T
ENST00000648896.1:c.1401-33C>T ENSP00000497546.1:n.1401-33C>T
ENST00000649186.1:c.1122-33C>T ENSP00000497879.1:n.1122-33C>T
ENST00000649520.1:c.1122-33C>T ENSP00000497647.1:n.1122-33C>T
ENST00000649971.1:c.1221-33C>T ENSP00000497011.1:n.1221-33C>T
ENST00000650120.1:c.1122-33C>T ENSP00000497553.1:n.1122-33C>T
ENST00000302955.10:c.1293-33C>T ENSP00000307471.6:n.1293-33C>T
ENST00000399506.6:c.1302-33C>T ENSP00000382425.2:n.1302-33C>T
ENST00000399510.6:c.1431-33C>T ENSP00000382428.2:n.1431-33C>T
NM_001128827.1:c.1293-33C>T NP_001122299.1:n.1293-33C>T
NM_001365.3:c.1431-33C>T NP_001356.1:n.1431-33C>T
XM_005256489.2:c.1422-33C>T XP_005256546.1:n.1422-33C>T
XM_005256491.1:c.1392-33C>T XP_005256548.1:n.1392-33C>T
XM_005256492.1:c.1302-33C>T XP_005256549.1:n.1302-33C>T
XM_005256493.3:c.1122-33C>T XP_005256550.1:n.1122-33C>T
XM_005256494.2:c.1122-33C>T XP_005256551.1:n.1122-33C>T
XM_011523698.1:c.1521-33C>T XP_011522000.1:n.1521-33C>T
XM_011523699.1:c.1521-33C>T XP_011522001.1:n.1521-33C>T
XM_011523700.1:c.1314-33C>T XP_011522002.1:n.1314-33C>T
XM_011523701.1:c.1404-33C>T XP_011522003.1:n.1404-33C>T
XM_011523702.1:c.1122-33C>T XP_011522004.1:n.1122-33C>T
XR_243545.2:n.2430-33C>T
XR_934005.1:n.2520-33C>T
NM_001128827.2:c.1293-33C>T NP_001122299.1:n.1293-33C>T
NM_001321074.1:c.1422-33C>T NP_001308003.1:n.1422-33C>T
NM_001321075.1:c.1302-33C>T NP_001308004.1:n.1302-33C>T
NM_001321076.1:c.1122-33C>T NP_001308005.1:n.1122-33C>T
NM_001321077.1:c.1122-33C>T NP_001308006.1:n.1122-33C>T
NM_001365.4:c.1431-33C>T NP_001356.1:n.1431-33C>T
NR_135527.1:n.2632-33C>T
XM_011523699.2:c.1521-33C>T XP_011522001.1:n.1521-33C>T
XM_017024288.2:c.1236-33C>T XP_016879777.1:n.1236-33C>T
XM_017024289.2:c.1227-33C>T XP_016879778.1:n.1227-33C>T
XM_017024290.2:c.1221-33C>T XP_016879779.1:n.1221-33C>T
XM_024450629.1:c.1287-33C>T XP_024306397.1:n.1287-33C>T
XR_934005.2:n.2514-33C>T
NM_001128827.3:c.1293-33C>T NP_001122299.1:n.1293-33C>T
NM_001321075.3:c.1302-33C>T MANE Select NP_001308004.1:n.1302-33C>T
NM_001321076.2:c.1122-33C>T NP_001308005.1:n.1122-33C>T
NM_001321077.2:c.1122-33C>T NP_001308006.1:n.1122-33C>T
NM_001369566.2:c.1221-33C>T NP_001356495.1:n.1221-33C>T
NM_001128827.4:c.1293-33C>T NP_001122299.1:n.1293-33C>T
NM_001321076.3:c.1122-33C>T NP_001308005.1:n.1122-33C>T
NM_001321077.3:c.1122-33C>T NP_001308006.1:n.1122-33C>T
NM_001369566.3:c.1221-33C>T NP_001356495.1:n.1221-33C>T