Canonical Allele Identifier: CA400934977

Gene: CD300LF RAB37

Linked Data

• dbSNP Id: rs1464419978
• gnomAD v3: 17-74695758-C-G
• gnomAD v4: 17-74695758-C-G
• MyVariant Identifiers: chr17:g.72691897C>G (hg19) ; chr17:g.74695758C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74695758C>G , CM000679.2:g.74695758C>G	GRCh38
NC_000017.10:g.72691897C>G , CM000679.1:g.72691897C>G	GRCh37
NC_000017.9:g.70203492C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326165.11:c.684G>C (CD300LF) MANE Select	ENSP00000327075.6:p.Gln228His
ENST00000301573.13:c.730G>C (CD300LF)	ENSP00000301573.9:p.Gly244Arg
ENST00000326165.10:c.684G>C (CD300LF)	ENSP00000327075.6:p.Gln228His
ENST00000340415.7:c.72+24100C>G (RAB37)	ENSP00000341354.3:n.72+24100C>G
ENST00000343125.8:c.580G>C (CD300LF)	ENSP00000343751.4:p.Gly194Arg
ENST00000361254.8:c.715G>C (CD300LF)	ENSP00000355294.4:p.Gly239Arg
ENST00000392617.7:n.479+24100C>G (RAB37)
ENST00000402449.8:c.72+24100C>G (RAB37)	ENSP00000383934.4:n.72+24100C>G
ENST00000462044.5:c.*59G>C (CD300LF)	ENSP00000464223.1:n.*59G>C
ENST00000464910.5:c.693G>C (CD300LF)	ENSP00000464257.1:p.Gln231His
ENST00000469092.5:c.580G>C (CD300LF)	ENSP00000463743.1:p.Gly194Arg
ENST00000581500.1:c.715G>C (CD300LF)	ENSP00000464610.1:p.Gly239Arg
ENST00000583937.5:c.729G>C (CD300LF)	ENSP00000462309.1:p.Gln243His
NM_001289082.1:c.580G>C (CD300LF)	NP_001276011.1:p.Gly194Arg
NM_001289083.1:c.730G>C (CD300LF)	NP_001276012.1:p.Gly244Arg
NM_001289084.1:c.729G>C (CD300LF)	NP_001276013.1:p.Gln243His
NM_001289085.1:c.693G>C (CD300LF)	NP_001276014.1:p.Gln231His
NM_001289086.1:c.715G>C (CD300LF)	NP_001276015.1:p.Gly239Arg
NM_001289087.1:c.661G>C (CD300LF)	NP_001276016.1:p.Gly221Arg
NM_139018.4:c.684G>C (CD300LF)	NP_620587.2:p.Gln228His
NM_175738.4:c.72+24100C>G (RAB37)	NP_783865.1:n.72+24100C>G
NR_110298.1:n.856G>C (CD300LF)
XM_011524369.1:c.816G>C (CD300LF)	XP_011522671.1:p.Gln272His
XM_011524370.1:c.807G>C (CD300LF)	XP_011522672.1:p.Gln269His
XM_011524371.1:c.807G>C (CD300LF)	XP_011522673.1:p.Gln269His
XM_011524372.1:c.771G>C (CD300LF)	XP_011522674.1:p.Gln257His
XM_011524373.1:c.762G>C (CD300LF)	XP_011522675.1:p.Gln254His
XM_011524374.1:c.762G>C (CD300LF)	XP_011522676.1:p.Gln254His
XM_011524375.1:c.738G>C (CD300LF)	XP_011522677.1:p.Gln246His
XM_011524376.1:c.793G>C (CD300LF)	XP_011522678.1:p.Gly265Arg
XM_011524377.1:c.793G>C (CD300LF)	XP_011522679.1:p.Gly265Arg
XM_011524378.1:c.784G>C (CD300LF)	XP_011522680.1:p.Gly262Arg
XM_011524379.1:c.748G>C (CD300LF)	XP_011522681.1:p.Gly250Arg
XM_017024212.2:c.741G>C (CD300LF)	XP_016879701.1:p.Gln247His
XM_017024213.2:c.796G>C (CD300LF)	XP_016879702.1:p.Gly266Arg
XM_017024214.2:c.787G>C (CD300LF)	XP_016879703.1:p.Gly263Arg
XM_017024215.1:c.739G>C (CD300LF)	XP_016879704.1:p.Gly247Arg
XM_017024216.2:c.718G>C (CD300LF)	XP_016879705.1:p.Gly240Arg
XM_017024217.2:c.706G>C (CD300LF)	XP_016879706.1:p.Gly236Arg
NM_139018.5:c.684G>C (CD300LF) MANE Select	NP_620587.2:p.Gln228His
NM_001289082.2:c.580G>C (CD300LF)	NP_001276011.1:p.Gly194Arg
NM_001289083.2:c.730G>C (CD300LF)	NP_001276012.1:p.Gly244Arg
NM_001289084.2:c.729G>C (CD300LF)	NP_001276013.1:p.Gln243His
NM_001289085.2:c.693G>C (CD300LF)	NP_001276014.1:p.Gln231His
NM_001289086.2:c.715G>C (CD300LF)	NP_001276015.1:p.Gly239Arg
NM_001289087.2:c.661G>C (CD300LF)	NP_001276016.1:p.Gly221Arg
NM_175738.5:c.72+24100C>G (RAB37)	NP_783865.1:n.72+24100C>G
NR_110298.2:n.779G>C (CD300LF)