Canonical Allele Identifier: CA473298296

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2119220
• ClinVar RCV Id: RCV003054548
• MyVariant Identifiers: chr11:g.17417433A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395886A>G , CM000673.2:g.17395886A>G	GRCh38
NC_000011.9:g.17417433A>G , CM000673.1:g.17417433A>G	GRCh37
NC_000011.8:g.17374009A>G	NCBI36
NG_008867.1:g.86017T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3765T>C
ENST00000528374.2:c.755T>C
ENST00000529967.6:n.2503T>C
ENST00000532220.2:n.3397T>C
ENST00000642611.2:n.5364T>C
ENST00000644057.2:n.607T>C
ENST00000645004.2:n.1663T>C
ENST00000682051.1:n.4326T>C
ENST00000682110.1:n.4379T>C
ENST00000682140.1:c.4030T>C	ENSP00000507829.1:p.Ser1344Pro
ENST00000682185.1:n.5469T>C
ENST00000682204.1:c.*2302T>C	ENSP00000507094.1:n.*2302T>C
ENST00000682215.1:n.4746T>C
ENST00000682288.1:c.*2595T>C	ENSP00000507506.1:n.*2595T>C
ENST00000682442.1:n.4599T>C
ENST00000682528.1:n.4456T>C
ENST00000682673.1:n.4323T>C
ENST00000682805.1:n.4784T>C
ENST00000682965.1:c.*586T>C	ENSP00000508229.1:n.*586T>C
ENST00000683093.1:n.5463T>C
ENST00000683136.1:c.4047T>C	ENSP00000507768.1:p.Ser1349=
ENST00000683153.1:n.4421T>C
ENST00000683365.1:n.4481T>C
ENST00000683377.1:n.4379T>C
ENST00000683456.1:c.*1301T>C	ENSP00000508318.1:n.*1301T>C
ENST00000683522.1:n.4379T>C
ENST00000683562.1:c.*2333T>C	ENSP00000508265.1:n.*2333T>C
ENST00000683693.1:n.5811T>C
ENST00000683725.1:c.4164T>C	ENSP00000507496.1:p.Ser1388=
ENST00000684010.1:n.4374T>C
ENST00000684157.1:n.5364T>C
ENST00000684253.1:n.4282T>C
ENST00000684288.1:c.*2336T>C	ENSP00000507143.1:n.*2336T>C
ENST00000684313.1:n.3811T>C
ENST00000684332.1:n.4452T>C
ENST00000684371.1:n.4485T>C
ENST00000684404.1:n.5407T>C
ENST00000684442.1:n.4603T>C
ENST00000684555.1:c.*2376T>C	ENSP00000507705.1:n.*2376T>C
ENST00000684571.1:c.4005T>C	ENSP00000506935.1:p.Ser1335=
ENST00000684593.1:c.*3869T>C	ENSP00000507005.1:n.*3869T>C
ENST00000684711.1:c.*2560T>C	ENSP00000506841.1:n.*2560T>C
ENST00000302539.9:c.4167T>C	ENSP00000303960.4:p.Ser1389=
ENST00000389817.8:c.4164T>C MANE Select	ENSP00000374467.4:p.Ser1388=
ENST00000642271.1:c.4161T>C	ENSP00000493749.1:p.Ser1387=
ENST00000642579.1:c.2218T>C
ENST00000642611.1:n.5249T>C
ENST00000642902.1:c.3946T>C
ENST00000643260.1:c.4164T>C	ENSP00000494450.1:p.Ser1388=
ENST00000643562.1:c.*2286T>C	ENSP00000496124.1:n.*2286T>C
ENST00000643925.1:c.2804T>C
ENST00000644057.1:n.241T>C
ENST00000644484.1:c.*3550T>C	ENSP00000493558.1:n.*3550T>C
ENST00000644675.1:c.*2336T>C	ENSP00000494567.1:n.*2336T>C
ENST00000644757.1:c.*3202+378T>C	ENSP00000495085.1:n.*3202+378T>C
ENST00000644772.1:c.4230T>C	ENSP00000494321.1:p.Ser1410=
ENST00000645004.1:n.1857T>C
ENST00000645076.1:c.3363T>C
ENST00000645417.1:c.1352T>C
ENST00000645744.1:c.*3929T>C	ENSP00000494564.1:n.*3929T>C
ENST00000645760.1:c.4585T>C
ENST00000645884.1:c.*1447T>C	ENSP00000495516.1:n.*1447T>C
ENST00000646003.1:c.*2266T>C	ENSP00000495259.1:n.*2266T>C
ENST00000646207.1:c.*3001T>C	ENSP00000495025.1:n.*3001T>C
ENST00000646276.1:c.*3568T>C	ENSP00000496070.1:n.*3568T>C
ENST00000646592.1:c.3470T>C
ENST00000646902.1:c.4131T>C	ENSP00000494101.1:p.Ser1377=
ENST00000646993.1:c.*2706T>C	ENSP00000493720.1:n.*2706T>C
ENST00000647013.1:c.4170T>C	ENSP00000496741.1:n.4170T>C
ENST00000647015.1:c.3915T>C	ENSP00000495389.1:p.Ser1305=
ENST00000647086.1:c.*3750T>C	ENSP00000493677.1:n.*3750T>C
ENST00000647158.1:c.*2451T>C	ENSP00000495744.1:n.*2451T>C
ENST00000302539.8:c.4167T>C	ENSP00000303960.4:p.Ser1389=
ENST00000389817.7:c.4164T>C	ENSP00000374467.3:p.Ser1388=
ENST00000525022.1:n.30T>C
ENST00000526168.5:c.32T>C
NM_000352.4:c.4164T>C	NP_000343.2:p.Ser1388=
NM_001287174.1:c.4167T>C	NP_001274103.1:p.Ser1389=
XM_011520331.1:c.4164T>C	XP_011518633.1:p.Ser1388=
XM_011520332.1:c.4167T>C	XP_011518634.1:p.Ser1389=
XM_011520333.1:c.2664T>C	XP_011518635.1:p.Ser888=
XR_930890.1:n.4230T>C
NM_001351295.1:c.4230T>C	NP_001338224.1:p.Ser1410=
NM_001351296.1:c.4164T>C	NP_001338225.1:p.Ser1388=
NM_001351297.1:c.4161T>C	NP_001338226.1:p.Ser1387=
NR_147094.1:n.4459T>C
XM_017018197.2:c.4233T>C	XP_016873686.1:p.Ser1411=
XM_017018199.1:c.4230T>C	XP_016873688.1:p.Ser1410=
XM_017018201.2:c.4233T>C	XP_016873690.1:p.Ser1411=
XM_017018202.1:c.2730T>C	XP_016873691.1:p.Ser910=
XM_017018204.1:c.2121T>C	XP_016873693.1:p.Ser707=
XM_024448668.1:c.2532T>C	XP_024304436.1:p.Ser844=
XR_001747945.2:n.4305T>C
XR_001747946.2:n.4236T>C
XR_002957189.1:n.5886T>C
NM_000352.6:c.4164T>C MANE Select	NP_000343.2:p.Ser1388=
NM_001287174.2:c.4167T>C	NP_001274103.1:p.Ser1389=
NM_001351295.2:c.4230T>C	NP_001338224.1:p.Ser1410=
NM_001351296.2:c.4164T>C	NP_001338225.1:p.Ser1388=
NM_001351297.2:c.4161T>C	NP_001338226.1:p.Ser1387=
NR_147094.2:n.4459T>C
NM_001287174.3:c.4167T>C	NP_001274103.1:p.Ser1389=