Canonical Allele Identifier: CA780983992
Gene: L3MBTL4 HGNC NCBI

Linked Data

dbSNP Id: rs1392965126
gnomAD v3: 18-5978832-C-T
gnomAD v4: 18-5978832-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.5978832C>T , CM000680.2:g.5978832C>T GRCh38
NC_000018.9:g.5978831C>T , CM000680.1:g.5978831C>T GRCh37
NC_000018.8:g.5968831C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000317931.12:c.1445-9270G>A MANE Select ENSP00000318543.7:n.1445-9270G>A
ENST00000284898.10:c.1472-9270G>A ENSP00000284898.6:n.1472-9270G>A
ENST00000317931.11:c.1445-9270G>A ENSP00000318543.7:n.1445-9270G>A
ENST00000400105.6:c.1472-9270G>A ENSP00000382976.2:n.1472-9270G>A
NM_173464.3:c.1472-9270G>A NP_775735.2:n.1472-9270G>A
XM_005258166.1:c.1445-9270G>A XP_005258223.1:n.1445-9270G>A
XM_011525757.1:c.1472-9270G>A XP_011524059.1:n.1472-9270G>A
XM_011525758.1:c.1472-9270G>A XP_011524060.1:n.1472-9270G>A
XM_011525759.1:c.1472-9270G>A XP_011524061.1:n.1472-9270G>A
XM_011525760.1:c.1445-9270G>A XP_011524062.1:n.1445-9270G>A
XM_011525761.1:c.1472-9270G>A XP_011524063.1:n.1472-9270G>A
XM_011525764.1:c.1374-9270G>A XP_011524066.1:n.1374-9270G>A
XM_011525767.1:c.605-9270G>A XP_011524069.1:n.605-9270G>A
NM_001330559.1:c.1445-9270G>A NP_001317488.1:n.1445-9270G>A
NM_001365765.1:c.1445-9270G>A NP_001352694.1:n.1445-9270G>A
NM_001365768.1:c.1374-18676G>A NP_001352697.1:n.1374-18676G>A
NM_001365769.1:c.1374-18676G>A NP_001352698.1:n.1374-18676G>A
NM_001365770.1:c.1472-9270G>A NP_001352699.1:n.1472-9270G>A
NR_158609.1:n.1575-9270G>A
NR_158610.1:n.1483-9270G>A
NR_158611.1:n.3719-9270G>A
XM_011525767.2:c.605-9270G>A XP_011524069.1:n.605-9270G>A
XM_017026074.1:c.1374-18676G>A XP_016881563.1:n.1374-18676G>A
NM_001330559.2:c.1445-9270G>A MANE Select NP_001317488.1:n.1445-9270G>A
NM_001365765.2:c.1445-9270G>A NP_001352694.1:n.1445-9270G>A
NM_001365768.2:c.1374-18676G>A NP_001352697.1:n.1374-18676G>A
NM_001365769.2:c.1374-18676G>A NP_001352698.1:n.1374-18676G>A
NM_001365770.2:c.1472-9270G>A NP_001352699.1:n.1472-9270G>A
NM_173464.4:c.1472-9270G>A NP_775735.2:n.1472-9270G>A
NR_158609.2:n.1575-9270G>A
NR_158610.2:n.1483-9270G>A
NR_158611.2:n.3719-9270G>A
NR_172504.1:n.361-6177C>T
NR_172505.1:n.361-6171C>T