Canonical Allele Identifier: CA628113423

Gene: L3MBTL4

Linked Data

• dbSNP Id: rs1296991250
• gnomAD v2: 18-5978888-C-A
• gnomAD v3: 18-5978889-C-A
• gnomAD v4: 18-5978889-C-A
• MyVariant Identifiers: chr18:g.5978888C>A (hg19) ; chr18:g.5978889C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.5978889C>A , CM000680.2:g.5978889C>A	GRCh38
NC_000018.9:g.5978888C>A , CM000680.1:g.5978888C>A	GRCh37
NC_000018.8:g.5968888C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000317931.12:c.1445-9327G>T MANE Select	ENSP00000318543.7:n.1445-9327G>T
ENST00000284898.10:c.1472-9327G>T	ENSP00000284898.6:n.1472-9327G>T
ENST00000317931.11:c.1445-9327G>T	ENSP00000318543.7:n.1445-9327G>T
ENST00000400105.6:c.1472-9327G>T	ENSP00000382976.2:n.1472-9327G>T
NM_173464.3:c.1472-9327G>T	NP_775735.2:n.1472-9327G>T
XM_005258166.1:c.1445-9327G>T	XP_005258223.1:n.1445-9327G>T
XM_011525757.1:c.1472-9327G>T	XP_011524059.1:n.1472-9327G>T
XM_011525758.1:c.1472-9327G>T	XP_011524060.1:n.1472-9327G>T
XM_011525759.1:c.1472-9327G>T	XP_011524061.1:n.1472-9327G>T
XM_011525760.1:c.1445-9327G>T	XP_011524062.1:n.1445-9327G>T
XM_011525761.1:c.1472-9327G>T	XP_011524063.1:n.1472-9327G>T
XM_011525764.1:c.1374-9327G>T	XP_011524066.1:n.1374-9327G>T
XM_011525767.1:c.605-9327G>T	XP_011524069.1:n.605-9327G>T
NM_001330559.1:c.1445-9327G>T	NP_001317488.1:n.1445-9327G>T
NM_001365765.1:c.1445-9327G>T	NP_001352694.1:n.1445-9327G>T
NM_001365768.1:c.1374-18733G>T	NP_001352697.1:n.1374-18733G>T
NM_001365769.1:c.1374-18733G>T	NP_001352698.1:n.1374-18733G>T
NM_001365770.1:c.1472-9327G>T	NP_001352699.1:n.1472-9327G>T
NR_158609.1:n.1575-9327G>T
NR_158610.1:n.1483-9327G>T
NR_158611.1:n.3719-9327G>T
XM_011525767.2:c.605-9327G>T	XP_011524069.1:n.605-9327G>T
XM_017026074.1:c.1374-18733G>T	XP_016881563.1:n.1374-18733G>T
NM_001330559.2:c.1445-9327G>T MANE Select	NP_001317488.1:n.1445-9327G>T
NM_001365765.2:c.1445-9327G>T	NP_001352694.1:n.1445-9327G>T
NM_001365768.2:c.1374-18733G>T	NP_001352697.1:n.1374-18733G>T
NM_001365769.2:c.1374-18733G>T	NP_001352698.1:n.1374-18733G>T
NM_001365770.2:c.1472-9327G>T	NP_001352699.1:n.1472-9327G>T
NM_173464.4:c.1472-9327G>T	NP_775735.2:n.1472-9327G>T
NR_158609.2:n.1575-9327G>T
NR_158610.2:n.1483-9327G>T
NR_158611.2:n.3719-9327G>T
NR_172504.1:n.361-6120C>A
NR_172505.1:n.361-6114C>A