Canonical Allele Identifier: CA402386738
Gene: LOXHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 448957
ClinVar RCV Id: RCV000520304
dbSNP Id: rs1248889536
gnomAD v4: 18-46610789-C-T
MyVariant Identifiers: chr18:g.44190752C>T (hg19) chr18:g.46610789C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46610789C>T , CM000680.2:g.46610789C>T GRCh38
NC_000018.9:g.44190752C>T , CM000680.1:g.44190752C>T GRCh37
NC_000018.8:g.42444750C>T NCBI36
NG_016646.1:g.51245G>A
NG_016646.2:g.51245G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642948.1:c.746G>A MANE Select ENSP00000496347.1:p.Trp249Ter
ENST00000441551.6:c.746G>A ENSP00000387621.2:p.Trp249Ter
ENST00000536736.5:c.746G>A ENSP00000444586.1:p.Trp249Ter
NM_144612.6:c.746G>A NP_653213.6:p.Trp249Ter
XM_011525803.1:c.746G>A XP_011524105.1:p.Trp249Ter
XM_017025548.1:c.746G>A XP_016881037.1:p.Trp249Ter
NM_001384474.1:c.746G>A MANE Select NP_001371403.1:p.Trp249Ter
NM_144612.7:c.746G>A NP_653213.6:p.Trp249Ter
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