Canonical Allele Identifier: CA2239797

Gene: SETD5

Linked Data

• ClinVar Variation Id: 2528743
• ClinVar RCV Id: RCV003280258
• dbSNP Id: rs754043387
• ExAC: 3:9517216 A / G
• gnomAD v2: 3-9517216-A-G
• gnomAD v4: 3-9475532-A-G
• MyVariant Identifiers: chr3:g.9517216A>G (hg19) ; chr3:g.9475532A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475532A>G , CM000665.2:g.9475532A>G	GRCh38
NC_000003.11:g.9517216A>G , CM000665.1:g.9517216A>G	GRCh37
NC_000003.10:g.9492216A>G	NCBI36
NG_034132.1:g.82833A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682236.1:n.2725A>G
ENST00000682536.1:c.3866A>G	ENSP00000507956.1:p.Gln1289Arg
ENST00000687014.1:n.4759A>G
ENST00000689167.1:n.2150A>G
ENST00000691925.1:n.6567A>G
ENST00000693430.1:n.6012A>G
ENST00000402198.7:c.3770A>G MANE Select	ENSP00000385852.2:p.Gln1257Arg
ENST00000663774.1:c.*3916A>G	ENSP00000499452.1:n.*3916A>G
ENST00000665872.1:c.*3839A>G	ENSP00000499600.1:n.*3839A>G
ENST00000666307.1:c.*4144A>G	ENSP00000499402.1:n.*4144A>G
ENST00000670063.1:c.*3875A>G	ENSP00000499725.1:n.*3875A>G
ENST00000302463.10:c.3476A>G	ENSP00000302028.6:p.Gln1159Arg
ENST00000399686.6:c.2722+376A>G
ENST00000402198.5:c.3770A>G	ENSP00000385852.1:p.Gln1257Arg
ENST00000406341.5:c.3770A>G	ENSP00000383939.1:p.Gln1257Arg
ENST00000407969.5:c.3827A>G	ENSP00000384114.1:p.Gln1276Arg
ENST00000413704.5:c.2806A>G
ENST00000459941.1:n.901A>G
ENST00000466242.5:n.3111A>G
ENST00000466826.1:n.157A>G
ENST00000493918.5:n.3934A>G
NM_001080517.2:c.3770A>G	NP_001073986.1:p.Gln1257Arg
NM_001292043.1:c.3476A>G	NP_001278972.1:p.Gln1159Arg
XM_005265301.1:c.3827A>G	XP_005265358.1:p.Gln1276Arg
XM_005265303.1:c.3770A>G	XP_005265360.1:p.Gln1257Arg
XM_011533920.1:c.3944A>G	XP_011532222.1:p.Gln1315Arg
XM_011533921.1:c.3944A>G	XP_011532223.1:p.Gln1315Arg
XM_011533922.1:c.3923A>G	XP_011532224.1:p.Gln1308Arg
XM_011533923.1:c.3923A>G	XP_011532225.1:p.Gln1308Arg
XM_011533924.1:c.3923A>G	XP_011532226.1:p.Gln1308Arg
XM_011533925.1:c.3905A>G	XP_011532227.1:p.Gln1302Arg
XM_011533926.1:c.3887A>G	XP_011532228.1:p.Gln1296Arg
XM_011533927.1:c.3887A>G	XP_011532229.1:p.Gln1296Arg
XM_011533928.1:c.3866A>G	XP_011532230.1:p.Gln1289Arg
XM_011533929.1:c.3848A>G	XP_011532231.1:p.Gln1283Arg
XM_011533930.1:c.3809A>G	XP_011532232.1:p.Gln1270Arg
XM_011533931.1:c.3533A>G	XP_011532233.1:p.Gln1178Arg
XM_011533932.1:c.3494A>G	XP_011532234.1:p.Gln1165Arg
XM_011533933.1:c.3494A>G	XP_011532235.1:p.Gln1165Arg
NM_001349451.1:c.3476A>G	NP_001336380.1:p.Gln1159Arg
XM_011533921.2:c.3944A>G	XP_011532223.1:p.Gln1315Arg
XM_017006767.1:c.3944A>G	XP_016862256.1:p.Gln1315Arg
XM_017006768.2:c.3923A>G	XP_016862257.1:p.Gln1308Arg
XM_017006770.1:c.3887A>G	XP_016862259.1:p.Gln1296Arg
XM_017006771.1:c.3884A>G	XP_016862260.1:p.Gln1295Arg
XM_017006772.1:c.3848A>G	XP_016862261.1:p.Gln1283Arg
XM_017006773.1:c.3848A>G	XP_016862262.1:p.Gln1283Arg
XM_017006774.1:c.3827A>G	XP_016862263.1:p.Gln1276Arg
XM_017006775.1:c.3791A>G	XP_016862264.1:p.Gln1264Arg
XM_017006776.1:c.3533A>G	XP_016862265.1:p.Gln1178Arg
XM_017006777.1:c.3533A>G	XP_016862266.1:p.Gln1178Arg
XM_017006778.1:c.3533A>G	XP_016862267.1:p.Gln1178Arg
XM_017006779.1:c.3494A>G	XP_016862268.1:p.Gln1165Arg
XM_017006780.1:c.3494A>G	XP_016862269.1:p.Gln1165Arg
XM_017006783.1:c.3266A>G	XP_016862272.1:p.Gln1089Arg
XM_024453620.1:c.3905A>G	XP_024309388.1:p.Gln1302Arg
XM_024453621.1:c.3581A>G	XP_024309389.1:p.Gln1194Arg
XR_001740195.2:n.8153A>G
NM_001080517.3:c.3770A>G MANE Select	NP_001073986.1:p.Gln1257Arg
NM_001292043.2:c.3476A>G	NP_001278972.1:p.Gln1159Arg
NM_001349451.2:c.3476A>G	NP_001336380.1:p.Gln1159Arg