Canonical Allele Identifier: CA379790715

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418534T>G (hg19) ; chr11:g.17396987T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396987T>G , CM000673.2:g.17396987T>G	GRCh38
NC_000011.9:g.17418534T>G , CM000673.1:g.17418534T>G	GRCh37
NC_000011.8:g.17375110T>G	NCBI36
NG_008867.1:g.84916A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3649A>C
ENST00000528374.2:c.639A>C
ENST00000529967.6:n.2387A>C
ENST00000532220.2:n.2296A>C
ENST00000642611.2:n.4263A>C
ENST00000644057.2:n.491A>C
ENST00000645004.2:n.1547A>C
ENST00000682051.1:n.4210A>C
ENST00000682110.1:n.4263A>C
ENST00000682140.1:c.3985+206A>C	ENSP00000507829.1:n.3985+206A>C
ENST00000682185.1:n.5353A>C
ENST00000682204.1:c.*2186A>C	ENSP00000507094.1:n.*2186A>C
ENST00000682215.1:n.4630A>C
ENST00000682288.1:c.*2479A>C	ENSP00000507506.1:n.*2479A>C
ENST00000682442.1:n.4483A>C
ENST00000682528.1:n.4340A>C
ENST00000682673.1:n.4207A>C
ENST00000682805.1:n.4630A>C
ENST00000682965.1:c.*470A>C	ENSP00000508229.1:n.*470A>C
ENST00000683093.1:n.4362A>C
ENST00000683136.1:c.3931A>C	ENSP00000507768.1:p.Ser1311Arg
ENST00000683153.1:n.4305A>C
ENST00000683365.1:n.4365A>C
ENST00000683377.1:n.4263A>C
ENST00000683456.1:c.*1185A>C	ENSP00000508318.1:n.*1185A>C
ENST00000683522.1:n.4263A>C
ENST00000683562.1:c.*2217A>C	ENSP00000508265.1:n.*2217A>C
ENST00000683693.1:n.4710A>C
ENST00000683725.1:c.4048A>C	ENSP00000507496.1:p.Ser1350Arg
ENST00000684010.1:n.4258A>C
ENST00000684157.1:n.4263A>C
ENST00000684253.1:n.4166A>C
ENST00000684288.1:c.*2220A>C	ENSP00000507143.1:n.*2220A>C
ENST00000684313.1:n.3695A>C
ENST00000684332.1:n.4336A>C
ENST00000684371.1:n.4369A>C
ENST00000684404.1:n.4306A>C
ENST00000684442.1:n.4487A>C
ENST00000684555.1:c.*2260A>C	ENSP00000507705.1:n.*2260A>C
ENST00000684571.1:c.3889A>C	ENSP00000506935.1:p.Ser1297Arg
ENST00000684593.1:c.*3753A>C	ENSP00000507005.1:n.*3753A>C
ENST00000684711.1:c.*2444A>C	ENSP00000506841.1:n.*2444A>C
ENST00000302539.9:c.4051A>C	ENSP00000303960.4:p.Ser1351Arg
ENST00000389817.8:c.4048A>C MANE Select	ENSP00000374467.4:p.Ser1350Arg
ENST00000642271.1:c.4045A>C	ENSP00000493749.1:p.Ser1349Arg
ENST00000642579.1:c.2102A>C
ENST00000642611.1:n.4148A>C
ENST00000642902.1:c.3830A>C
ENST00000643260.1:c.4048A>C	ENSP00000494450.1:p.Ser1350Arg
ENST00000643562.1:c.*2170A>C	ENSP00000496124.1:n.*2170A>C
ENST00000643925.1:c.2688A>C
ENST00000644057.1:n.125A>C
ENST00000644484.1:c.*2449A>C	ENSP00000493558.1:n.*2449A>C
ENST00000644675.1:c.*2220A>C	ENSP00000494567.1:n.*2220A>C
ENST00000644757.1:c.*2479A>C	ENSP00000495085.1:n.*2479A>C
ENST00000644772.1:c.4114A>C	ENSP00000494321.1:p.Ser1372Arg
ENST00000645004.1:n.1703A>C
ENST00000645076.1:c.3247A>C
ENST00000645417.1:c.1236A>C
ENST00000645744.1:c.*2828A>C	ENSP00000494564.1:n.*2828A>C
ENST00000645760.1:c.4469A>C
ENST00000645884.1:c.*1331A>C	ENSP00000495516.1:n.*1331A>C
ENST00000646003.1:c.*2150A>C	ENSP00000495259.1:n.*2150A>C
ENST00000646207.1:c.*2885A>C	ENSP00000495025.1:n.*2885A>C
ENST00000646276.1:c.*2467A>C	ENSP00000496070.1:n.*2467A>C
ENST00000646592.1:c.3354A>C
ENST00000646902.1:c.4015A>C	ENSP00000494101.1:p.Ser1339Arg
ENST00000646993.1:c.*2590A>C	ENSP00000493720.1:n.*2590A>C
ENST00000647013.1:c.4054A>C	ENSP00000496741.1:n.4054A>C
ENST00000647015.1:c.3799A>C	ENSP00000495389.1:p.Ser1267Arg
ENST00000647086.1:c.*3634A>C	ENSP00000493677.1:n.*3634A>C
ENST00000647158.1:c.*2335A>C	ENSP00000495744.1:n.*2335A>C
ENST00000302539.8:c.4051A>C	ENSP00000303960.4:p.Ser1351Arg
ENST00000389817.7:c.4048A>C	ENSP00000374467.3:p.Ser1350Arg
ENST00000527905.5:c.*1070A>C	ENSP00000431653.1:n.*1070A>C
ENST00000528374.1:c.530A>C
ENST00000531137.1:n.613A>C
ENST00000531891.1:c.386A>C
ENST00000532220.1:n.522A>C
NM_000352.4:c.4048A>C	NP_000343.2:p.Ser1350Arg
NM_001287174.1:c.4051A>C	NP_001274103.1:p.Ser1351Arg
XM_011520331.1:c.4048A>C	XP_011518633.1:p.Ser1350Arg
XM_011520332.1:c.4051A>C	XP_011518634.1:p.Ser1351Arg
XM_011520333.1:c.2548A>C	XP_011518635.1:p.Ser850Arg
XR_930890.1:n.4114A>C
NM_001351295.1:c.4114A>C	NP_001338224.1:p.Ser1372Arg
NM_001351296.1:c.4048A>C	NP_001338225.1:p.Ser1350Arg
NM_001351297.1:c.4045A>C	NP_001338226.1:p.Ser1349Arg
NR_147094.1:n.4343A>C
XM_017018197.2:c.4117A>C	XP_016873686.1:p.Ser1373Arg
XM_017018199.1:c.4114A>C	XP_016873688.1:p.Ser1372Arg
XM_017018201.2:c.4117A>C	XP_016873690.1:p.Ser1373Arg
XM_017018202.1:c.2614A>C	XP_016873691.1:p.Ser872Arg
XM_017018204.1:c.2005A>C	XP_016873693.1:p.Ser669Arg
XM_024448668.1:c.2416A>C	XP_024304436.1:p.Ser806Arg
XR_001747945.2:n.4189A>C
XR_001747946.2:n.4120A>C
XR_002957189.1:n.4785A>C
NM_000352.6:c.4048A>C MANE Select	NP_000343.2:p.Ser1350Arg
NM_001287174.2:c.4051A>C	NP_001274103.1:p.Ser1351Arg
NM_001351295.2:c.4114A>C	NP_001338224.1:p.Ser1372Arg
NM_001351296.2:c.4048A>C	NP_001338225.1:p.Ser1350Arg
NM_001351297.2:c.4045A>C	NP_001338226.1:p.Ser1349Arg
NR_147094.2:n.4343A>C
NM_001287174.3:c.4051A>C	NP_001274103.1:p.Ser1351Arg