Canonical Allele Identifier: CA261931
Gene: LOXHD1 HGNC NCBI
ClinVar RCV:
RCV000041202
RCV000512767
RCV000778910
RCV001375153
ClinVar Variation:
47930
dbSNP:
188119157
gnomAD v2:
18:44143129 G / A
gnomAD v3:
18:46563166 G / A
gnomAD v4:
chr18-46563166-G-A
Joint Max Group AF 0.00004454 (NFE)
Genomes Max Group AF 0.00001973 (NFE)
Exomes Max Group AF 0.00004375 (NFE)
MyVariant.info:
GRCh38 chr18:g.46563166G>A
GRCh37 chr18:g.44143129G>A
Revel Score:
ENST00000441551 0.461
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46563166G>A , CM000680.2:g.46563166G>A GRCh38
NC_000018.9:g.44143129G>A , CM000680.1:g.44143129G>A GRCh37
NC_000018.8:g.42397127G>A NCBI36
NG_016646.1:g.98868C>T
NG_016646.2:g.98868C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642948.1:c.2497C>T MANE Select ENSP00000496347.1:p.Arg833Ter
ENST00000335730.6:n.1810C>T
ENST00000441551.6:c.2497C>T ENSP00000387621.2:p.Arg833Ter
ENST00000536736.5:c.2497C>T ENSP00000444586.1:p.Arg833Ter
NM_144612.6:c.2497C>T NP_653213.6:p.Arg833Ter
XM_011525803.1:c.2497C>T XP_011524105.1:p.Arg833Ter
XM_011525804.1:c.658C>T XP_011524106.1:p.Arg220Ter
XM_011525804.2:c.658C>T XP_011524106.1:p.Arg220Ter
XM_017025548.1:c.2497C>T XP_016881037.1:p.Arg833Ter
XM_024451084.1:c.979C>T XP_024306852.1:p.Arg327Ter
NM_001384474.1:c.2497C>T MANE Select NP_001371403.1:p.Arg833Ter
NM_144612.7:c.2497C>T NP_653213.6:p.Arg833Ter
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