Canonical Allele Identifier: CA351690927

Gene: SETD5

Linked Data

• ClinVar Variation Id: 1207215
• ClinVar RCV Id: RCV001575131
• dbSNP Id: rs1265829808
• gnomAD v2: 3-9517225-C-G
• gnomAD v3: 3-9475541-C-G
• gnomAD v4: 3-9475541-C-G
• MyVariant Identifiers: chr3:g.9517225C>G (hg19) ; chr3:g.9475541C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475541C>G , CM000665.2:g.9475541C>G	GRCh38
NC_000003.11:g.9517225C>G , CM000665.1:g.9517225C>G	GRCh37
NC_000003.10:g.9492225C>G	NCBI36
NG_034132.1:g.82842C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2734C>G
ENST00000682536.1:c.3875C>G	ENSP00000507956.1:p.Ser1292Cys
ENST00000687014.1:n.4768C>G
ENST00000689167.1:n.2159C>G
ENST00000691925.1:n.6576C>G
ENST00000693430.1:n.6021C>G
ENST00000402198.7:c.3779C>G MANE Select	ENSP00000385852.2:p.Ser1260Cys
ENST00000663774.1:c.*3925C>G	ENSP00000499452.1:n.*3925C>G
ENST00000665872.1:c.*3848C>G	ENSP00000499600.1:n.*3848C>G
ENST00000666307.1:c.*4153C>G	ENSP00000499402.1:n.*4153C>G
ENST00000670063.1:c.*3884C>G	ENSP00000499725.1:n.*3884C>G
ENST00000302463.10:c.3485C>G	ENSP00000302028.6:p.Ser1162Cys
ENST00000399686.6:c.2722+385C>G
ENST00000402198.5:c.3779C>G	ENSP00000385852.1:p.Ser1260Cys
ENST00000406341.5:c.3779C>G	ENSP00000383939.1:p.Ser1260Cys
ENST00000407969.5:c.3836C>G	ENSP00000384114.1:p.Ser1279Cys
ENST00000413704.5:c.2815C>G
ENST00000459941.1:n.910C>G
ENST00000466242.5:n.3120C>G
ENST00000466826.1:n.166C>G
ENST00000493918.5:n.3943C>G
NM_001080517.2:c.3779C>G	NP_001073986.1:p.Ser1260Cys
NM_001292043.1:c.3485C>G	NP_001278972.1:p.Ser1162Cys
XM_005265301.1:c.3836C>G	XP_005265358.1:p.Ser1279Cys
XM_005265303.1:c.3779C>G	XP_005265360.1:p.Ser1260Cys
XM_011533920.1:c.3953C>G	XP_011532222.1:p.Ser1318Cys
XM_011533921.1:c.3953C>G	XP_011532223.1:p.Ser1318Cys
XM_011533922.1:c.3932C>G	XP_011532224.1:p.Ser1311Cys
XM_011533923.1:c.3932C>G	XP_011532225.1:p.Ser1311Cys
XM_011533924.1:c.3932C>G	XP_011532226.1:p.Ser1311Cys
XM_011533925.1:c.3914C>G	XP_011532227.1:p.Ser1305Cys
XM_011533926.1:c.3896C>G	XP_011532228.1:p.Ser1299Cys
XM_011533927.1:c.3896C>G	XP_011532229.1:p.Ser1299Cys
XM_011533928.1:c.3875C>G	XP_011532230.1:p.Ser1292Cys
XM_011533929.1:c.3857C>G	XP_011532231.1:p.Ser1286Cys
XM_011533930.1:c.3818C>G	XP_011532232.1:p.Ser1273Cys
XM_011533931.1:c.3542C>G	XP_011532233.1:p.Ser1181Cys
XM_011533932.1:c.3503C>G	XP_011532234.1:p.Ser1168Cys
XM_011533933.1:c.3503C>G	XP_011532235.1:p.Ser1168Cys
NM_001349451.1:c.3485C>G	NP_001336380.1:p.Ser1162Cys
XM_011533921.2:c.3953C>G	XP_011532223.1:p.Ser1318Cys
XM_017006767.1:c.3953C>G	XP_016862256.1:p.Ser1318Cys
XM_017006768.2:c.3932C>G	XP_016862257.1:p.Ser1311Cys
XM_017006770.1:c.3896C>G	XP_016862259.1:p.Ser1299Cys
XM_017006771.1:c.3893C>G	XP_016862260.1:p.Ser1298Cys
XM_017006772.1:c.3857C>G	XP_016862261.1:p.Ser1286Cys
XM_017006773.1:c.3857C>G	XP_016862262.1:p.Ser1286Cys
XM_017006774.1:c.3836C>G	XP_016862263.1:p.Ser1279Cys
XM_017006775.1:c.3800C>G	XP_016862264.1:p.Ser1267Cys
XM_017006776.1:c.3542C>G	XP_016862265.1:p.Ser1181Cys
XM_017006777.1:c.3542C>G	XP_016862266.1:p.Ser1181Cys
XM_017006778.1:c.3542C>G	XP_016862267.1:p.Ser1181Cys
XM_017006779.1:c.3503C>G	XP_016862268.1:p.Ser1168Cys
XM_017006780.1:c.3503C>G	XP_016862269.1:p.Ser1168Cys
XM_017006783.1:c.3275C>G	XP_016862272.1:p.Ser1092Cys
XM_024453620.1:c.3914C>G	XP_024309388.1:p.Ser1305Cys
XM_024453621.1:c.3590C>G	XP_024309389.1:p.Ser1197Cys
XR_001740195.2:n.8162C>G
NM_001080517.3:c.3779C>G MANE Select	NP_001073986.1:p.Ser1260Cys
NM_001292043.2:c.3485C>G	NP_001278972.1:p.Ser1162Cys
NM_001349451.2:c.3485C>G	NP_001336380.1:p.Ser1162Cys