Canonical Allele Identifier: CA14516233

Gene: LOXHD1

Linked Data

• ClinVar Variation Id: 1234124
• ClinVar RCV Id: RCV001620360
• dbSNP Id: rs435770
• gnomAD v2: 18-44151895-T-C
• gnomAD v3: 18-46571932-T-C
• gnomAD v4: 18-46571932-T-C
• MyVariant Identifiers: chr18:g.44151895T>C (hg19) ; chr18:g.46571932T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46571932T>C , CM000680.2:g.46571932T>C	GRCh38
NC_000018.9:g.44151895T>C , CM000680.1:g.44151895T>C	GRCh37
NC_000018.8:g.42405893T>C	NCBI36
NG_016646.1:g.90102A>G
NG_016646.2:g.90102A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642948.1:c.2047+154A>G MANE Select	ENSP00000496347.1:n.2047+154A>G
ENST00000335730.6:n.1360+154A>G
ENST00000441551.6:c.2047+154A>G	ENSP00000387621.2:n.2047+154A>G
ENST00000536736.5:c.2047+154A>G	ENSP00000444586.1:n.2047+154A>G
NM_144612.6:c.2047+154A>G	NP_653213.6:n.2047+154A>G
XM_011525803.1:c.2047+154A>G	XP_011524105.1:n.2047+154A>G
XM_011525804.1:c.208+154A>G	XP_011524106.1:n.208+154A>G
XM_011525804.2:c.208+154A>G	XP_011524106.1:n.208+154A>G
XM_017025548.1:c.2047+154A>G	XP_016881037.1:n.2047+154A>G
XM_024451084.1:c.529+154A>G	XP_024306852.1:n.529+154A>G
NM_001384474.1:c.2047+154A>G MANE Select	NP_001371403.1:n.2047+154A>G
NM_144612.7:c.2047+154A>G	NP_653213.6:n.2047+154A>G