Canonical Allele Identifier: CA299794546
Gene: LOXHD1 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.46560448C>T
GRCh37 chr18:g.44140411C>T
GRCh37 chr18:g.44140411_44140412delinsTG
Revel Score:
ENST00000398722 0.160
ENST00000536736 0.160
ENST00000335730 0.160
gnomAD v2:
18:44140411 C / T
gnomAD v3:
18:46560448 C / T
gnomAD v4:
chr18-46560448-C-T
Joint Max Group AF 0.00005114 (AMR)
Genomes Max Group AF 0.00002259 (AMR)
Exomes Max Group AF 0.0000381 (AMR)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000642948.1:c.2696G>A MANE Select ENSP00000496347.1:p.Arg899Gln
ENST00000335730.6:n.2009G>A
ENST00000441551.6:c.2598+2617G>A ENSP00000387621.2:n.2598+2617G>A
ENST00000536736.5:c.2696G>A ENSP00000444586.1:p.Arg899Gln
NM_144612.6:c.2696G>A NP_653213.6:p.Arg899Gln
XM_011525803.1:c.2696G>A XP_011524105.1:p.Arg899Gln
XM_011525804.1:c.857G>A XP_011524106.1:p.Arg286Gln
XM_011525804.2:c.857G>A XP_011524106.1:p.Arg286Gln
XM_017025548.1:c.2598+2617G>A XP_016881037.1:n.2598+2617G>A
XM_024451084.1:c.1178G>A XP_024306852.1:p.Arg393Gln
NM_001384474.1:c.2696G>A MANE Select NP_001371403.1:p.Arg899Gln
NM_144612.7:c.2696G>A NP_653213.6:p.Arg899Gln
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