Canonical Allele Identifier: CA8749774

Gene: CD300LF RAB37

Linked Data

• ClinVar Variation Id: 2233524
• ClinVar RCV Id: RCV004096090
• dbSNP Id: rs377132505
• ExAC: 17:72691977 C / T
• gnomAD v2: 17-72691977-C-T
• gnomAD v3: 17-74695838-C-T
• gnomAD v4: 17-74695838-C-T
• MyVariant Identifiers: chr17:g.72691977C>T (hg19) ; chr17:g.74695838C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74695838C>T , CM000679.2:g.74695838C>T	GRCh38
NC_000017.10:g.72691977C>T , CM000679.1:g.72691977C>T	GRCh37
NC_000017.9:g.70203572C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326165.11:c.604G>A (CD300LF) MANE Select	ENSP00000327075.6:p.Asp202Asn
ENST00000301573.13:c.650G>A (CD300LF)	ENSP00000301573.9:p.Arg217Gln
ENST00000326165.10:c.604G>A (CD300LF)	ENSP00000327075.6:p.Asp202Asn
ENST00000340415.7:c.72+24180C>T (RAB37)	ENSP00000341354.3:n.72+24180C>T
ENST00000343125.8:c.500G>A (CD300LF)	ENSP00000343751.4:p.Arg167Gln
ENST00000361254.8:c.635G>A (CD300LF)	ENSP00000355294.4:p.Arg212Gln
ENST00000392617.7:n.479+24180C>T (RAB37)
ENST00000402449.8:c.72+24180C>T (RAB37)	ENSP00000383934.4:n.72+24180C>T
ENST00000462044.5:c.477G>A (CD300LF)	ENSP00000464223.1:p.Ala159=
ENST00000464910.5:c.613G>A (CD300LF)	ENSP00000464257.1:p.Asp205Asn
ENST00000469092.5:c.500G>A (CD300LF)	ENSP00000463743.1:p.Arg167Gln
ENST00000581500.1:c.635G>A (CD300LF)	ENSP00000464610.1:p.Arg212Gln
ENST00000583937.5:c.649G>A (CD300LF)	ENSP00000462309.1:p.Asp217Asn
NM_001289082.1:c.500G>A (CD300LF)	NP_001276011.1:p.Arg167Gln
NM_001289083.1:c.650G>A (CD300LF)	NP_001276012.1:p.Arg217Gln
NM_001289084.1:c.649G>A (CD300LF)	NP_001276013.1:p.Asp217Asn
NM_001289085.1:c.613G>A (CD300LF)	NP_001276014.1:p.Asp205Asn
NM_001289086.1:c.635G>A (CD300LF)	NP_001276015.1:p.Arg212Gln
NM_001289087.1:c.581G>A (CD300LF)	NP_001276016.1:p.Arg194Gln
NM_139018.4:c.604G>A (CD300LF)	NP_620587.2:p.Asp202Asn
NM_175738.4:c.72+24180C>T (RAB37)	NP_783865.1:n.72+24180C>T
NR_110298.1:n.776G>A (CD300LF)
XM_011524369.1:c.736G>A (CD300LF)	XP_011522671.1:p.Asp246Asn
XM_011524370.1:c.727G>A (CD300LF)	XP_011522672.1:p.Asp243Asn
XM_011524371.1:c.727G>A (CD300LF)	XP_011522673.1:p.Asp243Asn
XM_011524372.1:c.691G>A (CD300LF)	XP_011522674.1:p.Asp231Asn
XM_011524373.1:c.682G>A (CD300LF)	XP_011522675.1:p.Asp228Asn
XM_011524374.1:c.682G>A (CD300LF)	XP_011522676.1:p.Asp228Asn
XM_011524375.1:c.658G>A (CD300LF)	XP_011522677.1:p.Asp220Asn
XM_011524376.1:c.713G>A (CD300LF)	XP_011522678.1:p.Arg238Gln
XM_011524377.1:c.713G>A (CD300LF)	XP_011522679.1:p.Arg238Gln
XM_011524378.1:c.704G>A (CD300LF)	XP_011522680.1:p.Arg235Gln
XM_011524379.1:c.668G>A (CD300LF)	XP_011522681.1:p.Arg223Gln
XM_017024212.2:c.661G>A (CD300LF)	XP_016879701.1:p.Asp221Asn
XM_017024213.2:c.716G>A (CD300LF)	XP_016879702.1:p.Arg239Gln
XM_017024214.2:c.707G>A (CD300LF)	XP_016879703.1:p.Arg236Gln
XM_017024215.1:c.659G>A (CD300LF)	XP_016879704.1:p.Arg220Gln
XM_017024216.2:c.638G>A (CD300LF)	XP_016879705.1:p.Arg213Gln
XM_017024217.2:c.626G>A (CD300LF)	XP_016879706.1:p.Arg209Gln
NM_139018.5:c.604G>A (CD300LF) MANE Select	NP_620587.2:p.Asp202Asn
NM_001289082.2:c.500G>A (CD300LF)	NP_001276011.1:p.Arg167Gln
NM_001289083.2:c.650G>A (CD300LF)	NP_001276012.1:p.Arg217Gln
NM_001289084.2:c.649G>A (CD300LF)	NP_001276013.1:p.Asp217Asn
NM_001289085.2:c.613G>A (CD300LF)	NP_001276014.1:p.Asp205Asn
NM_001289086.2:c.635G>A (CD300LF)	NP_001276015.1:p.Arg212Gln
NM_001289087.2:c.581G>A (CD300LF)	NP_001276016.1:p.Arg194Gln
NM_175738.5:c.72+24180C>T (RAB37)	NP_783865.1:n.72+24180C>T
NR_110298.2:n.699G>A (CD300LF)