Canonical Allele Identifier: CA8749757

Gene: CD300LF RAB37

Linked Data

• ClinVar Variation Id: 2216018
• ClinVar RCV Id: RCV004082781
• dbSNP Id: rs765481112
• ExAC: 17:72691916 G / A
• gnomAD v2: 17-72691916-G-A
• gnomAD v3: 17-74695777-G-A
• gnomAD v4: 17-74695777-G-A
• MyVariant Identifiers: chr17:g.72691916G>A (hg19) ; chr17:g.74695777G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74695777G>A , CM000679.2:g.74695777G>A	GRCh38
NC_000017.10:g.72691916G>A , CM000679.1:g.72691916G>A	GRCh37
NC_000017.9:g.70203511G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326165.11:c.665C>T (CD300LF) MANE Select	ENSP00000327075.6:p.Thr222Met
ENST00000301573.13:c.711C>T (CD300LF)	ENSP00000301573.9:p.His237=
ENST00000326165.10:c.665C>T (CD300LF)	ENSP00000327075.6:p.Thr222Met
ENST00000340415.7:c.72+24119G>A (RAB37)	ENSP00000341354.3:n.72+24119G>A
ENST00000343125.8:c.561C>T (CD300LF)	ENSP00000343751.4:p.His187=
ENST00000361254.8:c.696C>T (CD300LF)	ENSP00000355294.4:p.His232=
ENST00000392617.7:n.479+24119G>A (RAB37)
ENST00000402449.8:c.72+24119G>A (RAB37)	ENSP00000383934.4:n.72+24119G>A
ENST00000462044.5:c.*40C>T (CD300LF)	ENSP00000464223.1:n.*40C>T
ENST00000464910.5:c.674C>T (CD300LF)	ENSP00000464257.1:p.Thr225Met
ENST00000469092.5:c.561C>T (CD300LF)	ENSP00000463743.1:p.His187=
ENST00000581500.1:c.696C>T (CD300LF)	ENSP00000464610.1:p.His232=
ENST00000583937.5:c.710C>T (CD300LF)	ENSP00000462309.1:p.Thr237Met
NM_001289082.1:c.561C>T (CD300LF)	NP_001276011.1:p.His187=
NM_001289083.1:c.711C>T (CD300LF)	NP_001276012.1:p.His237=
NM_001289084.1:c.710C>T (CD300LF)	NP_001276013.1:p.Thr237Met
NM_001289085.1:c.674C>T (CD300LF)	NP_001276014.1:p.Thr225Met
NM_001289086.1:c.696C>T (CD300LF)	NP_001276015.1:p.His232=
NM_001289087.1:c.642C>T (CD300LF)	NP_001276016.1:p.His214=
NM_139018.4:c.665C>T (CD300LF)	NP_620587.2:p.Thr222Met
NM_175738.4:c.72+24119G>A (RAB37)	NP_783865.1:n.72+24119G>A
NR_110298.1:n.837C>T (CD300LF)
XM_011524369.1:c.797C>T (CD300LF)	XP_011522671.1:p.Thr266Met
XM_011524370.1:c.788C>T (CD300LF)	XP_011522672.1:p.Thr263Met
XM_011524371.1:c.788C>T (CD300LF)	XP_011522673.1:p.Thr263Met
XM_011524372.1:c.752C>T (CD300LF)	XP_011522674.1:p.Thr251Met
XM_011524373.1:c.743C>T (CD300LF)	XP_011522675.1:p.Thr248Met
XM_011524374.1:c.743C>T (CD300LF)	XP_011522676.1:p.Thr248Met
XM_011524375.1:c.719C>T (CD300LF)	XP_011522677.1:p.Thr240Met
XM_011524376.1:c.774C>T (CD300LF)	XP_011522678.1:p.His258=
XM_011524377.1:c.774C>T (CD300LF)	XP_011522679.1:p.His258=
XM_011524378.1:c.765C>T (CD300LF)	XP_011522680.1:p.His255=
XM_011524379.1:c.729C>T (CD300LF)	XP_011522681.1:p.His243=
XM_017024212.2:c.722C>T (CD300LF)	XP_016879701.1:p.Thr241Met
XM_017024213.2:c.777C>T (CD300LF)	XP_016879702.1:p.His259=
XM_017024214.2:c.768C>T (CD300LF)	XP_016879703.1:p.His256=
XM_017024215.1:c.720C>T (CD300LF)	XP_016879704.1:p.His240=
XM_017024216.2:c.699C>T (CD300LF)	XP_016879705.1:p.His233=
XM_017024217.2:c.687C>T (CD300LF)	XP_016879706.1:p.His229=
NM_139018.5:c.665C>T (CD300LF) MANE Select	NP_620587.2:p.Thr222Met
NM_001289082.2:c.561C>T (CD300LF)	NP_001276011.1:p.His187=
NM_001289083.2:c.711C>T (CD300LF)	NP_001276012.1:p.His237=
NM_001289084.2:c.710C>T (CD300LF)	NP_001276013.1:p.Thr237Met
NM_001289085.2:c.674C>T (CD300LF)	NP_001276014.1:p.Thr225Met
NM_001289086.2:c.696C>T (CD300LF)	NP_001276015.1:p.His232=
NM_001289087.2:c.642C>T (CD300LF)	NP_001276016.1:p.His214=
NM_175738.5:c.72+24119G>A (RAB37)	NP_783865.1:n.72+24119G>A
NR_110298.2:n.760C>T (CD300LF)