Canonical Allele Identifier: CA8952632
Gene: LOXHD1 HGNC NCBI
ClinVar RCV:
RCV000219519
RCV000485022
RCV001126895
RCV002271468
ClinVar Variation:
228819
dbSNP:
745683775
gnomAD v2:
18:44140411 C / G
gnomAD v3:
18:46560448 C / G
gnomAD v4:
chr18-46560448-C-G
Joint Max Group AF 0.00056917 (NFE)
Genomes Max Group AF 0.00037928 (NFE)
Exomes Max Group AF 0.00057356 (NFE)
MyVariant.info:
GRCh38 chr18:g.46560448C>G
GRCh37 chr18:g.44140411C>G
GRCh37 chr18:g.44140411_44140412delinsGG
Revel Score:
ENST00000398722 0.431
ENST00000536736 0.431
ENST00000335730 0.431
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46560448C>G , CM000680.2:g.46560448C>G GRCh38
NC_000018.9:g.44140411C>G , CM000680.1:g.44140411C>G GRCh37
NC_000018.8:g.42394409C>G NCBI36
NG_016646.1:g.101586G>C
NG_016646.2:g.101586G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642948.1:c.2696G>C MANE Select ENSP00000496347.1:p.Arg899Pro
ENST00000335730.6:n.2009G>C
ENST00000441551.6:c.2598+2617G>C ENSP00000387621.2:n.2598+2617G>C
ENST00000536736.5:c.2696G>C ENSP00000444586.1:p.Arg899Pro
NM_144612.6:c.2696G>C NP_653213.6:p.Arg899Pro
XM_011525803.1:c.2696G>C XP_011524105.1:p.Arg899Pro
XM_011525804.1:c.857G>C XP_011524106.1:p.Arg286Pro
XM_011525804.2:c.857G>C XP_011524106.1:p.Arg286Pro
XM_017025548.1:c.2598+2617G>C XP_016881037.1:n.2598+2617G>C
XM_024451084.1:c.1178G>C XP_024306852.1:p.Arg393Pro
NM_001384474.1:c.2696G>C MANE Select NP_001371403.1:p.Arg899Pro
NM_144612.7:c.2696G>C NP_653213.6:p.Arg899Pro
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