Canonical Allele Identifier: CA397717265
Community Standard Title: NM_001321075.3(DLG4):c.796C>T (p.Gln266Ter)
Gene: DLG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7197044G>A , CM000679.2:g.7197044G>A GRCh38
NC_000017.10:g.7100363G>A , CM000679.1:g.7100363G>A GRCh37
NC_000017.9:g.7041087G>A NCBI36
NG_008391.2:g.28007C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001321075.3:c.796C>T MANE Select NP_001308004.1:p.Gln266Ter
ENST00000399506.9:c.796C>T MANE Select ENSP00000382425.2:p.Gln266Ter
NM_001128827.1:c.787C>T NP_001122299.1:p.Gln263Ter
NM_001128827.2:c.787C>T NP_001122299.1:p.Gln263Ter
NM_001128827.3:c.787C>T NP_001122299.1:p.Gln263Ter
NM_001128827.4:c.787C>T NP_001122299.1:p.Gln263Ter
NM_001321074.1:c.916C>T NP_001308003.1:p.Gln306Ter
NM_001321075.1:c.796C>T NP_001308004.1:p.Gln266Ter
NM_001321076.1:c.616C>T NP_001308005.1:p.Gln206Ter
NM_001321076.2:c.616C>T NP_001308005.1:p.Gln206Ter
NM_001321076.3:c.616C>T NP_001308005.1:p.Gln206Ter
NM_001321077.1:c.616C>T NP_001308006.1:p.Gln206Ter
NM_001321077.2:c.616C>T NP_001308006.1:p.Gln206Ter
NM_001321077.3:c.616C>T NP_001308006.1:p.Gln206Ter
NM_001365.3:c.925C>T NP_001356.1:p.Gln309Ter
NM_001365.4:c.925C>T NP_001356.1:p.Gln309Ter
NM_001369566.2:c.715C>T NP_001356495.1:p.Gln239Ter
NM_001369566.3:c.715C>T NP_001356495.1:p.Gln239Ter
NR_135527.1:n.2126C>T
ENST00000302955.10:c.787C>T ENSP00000307471.6:p.Gln263Ter
ENST00000302955.11:c.787C>T ENSP00000307471.6:p.Gln263Ter
ENST00000399506.6:c.796C>T ENSP00000382425.2:p.Gln266Ter
ENST00000399510.6:c.925C>T ENSP00000382428.2:p.Gln309Ter
ENST00000399510.8:c.916C>T ENSP00000382428.3:p.Gln306Ter
ENST00000451807.7:c.712C>T ENSP00000407918.3:p.Gln238Ter
ENST00000491753.2:c.925C>T ENSP00000467897.2:p.Gln309Ter
ENST00000648103.2:n.1056C>T
ENST00000648172.8:c.925C>T ENSP00000497806.3:p.Gln309Ter
ENST00000648263.1:c.616C>T ENSP00000498035.1:p.Gln206Ter
ENST00000648707.1:n.831C>T
ENST00000648896.1:c.895C>T ENSP00000497546.1:p.Gln299Ter
ENST00000649186.1:c.616C>T ENSP00000497879.1:p.Gln206Ter
ENST00000649520.1:c.616C>T ENSP00000497647.1:p.Gln206Ter
ENST00000649971.1:c.715C>T ENSP00000497011.1:p.Gln239Ter
ENST00000650120.1:c.616C>T ENSP00000497553.1:p.Gln206Ter
XM_005256489.2:c.916C>T XP_005256546.1:p.Gln306Ter
XM_005256491.1:c.886C>T XP_005256548.1:p.Gln296Ter
XM_005256492.1:c.796C>T XP_005256549.1:p.Gln266Ter
XM_005256493.3:c.616C>T XP_005256550.1:p.Gln206Ter
XM_005256494.2:c.616C>T XP_005256551.1:p.Gln206Ter
XM_011523698.1:c.1015C>T XP_011522000.1:p.Gln339Ter
XM_011523699.1:c.1015C>T XP_011522001.1:p.Gln339Ter
XM_011523699.2:c.1015C>T XP_011522001.1:p.Gln339Ter
XM_011523700.1:c.808C>T XP_011522002.1:p.Gln270Ter
XM_011523701.1:c.898C>T XP_011522003.1:p.Gln300Ter
XM_011523702.1:c.616C>T XP_011522004.1:p.Gln206Ter
XM_017024288.2:c.730C>T XP_016879777.1:p.Gln244Ter
XM_017024289.2:c.721C>T XP_016879778.1:p.Gln241Ter
XM_017024290.2:c.715C>T XP_016879779.1:p.Gln239Ter
XM_024450629.1:c.781C>T XP_024306397.1:p.Gln261Ter
XR_243545.2:n.1924C>T
XR_934005.1:n.2014C>T
XR_934005.2:n.2008C>T