Canonical Allele Identifier: CA473298283

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395871-G-A
• MyVariant Identifiers: chr11:g.17417418G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395871G>A , CM000673.2:g.17395871G>A	GRCh38
NC_000011.9:g.17417418G>A , CM000673.1:g.17417418G>A	GRCh37
NC_000011.8:g.17373994G>A	NCBI36
NG_008867.1:g.86032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3780C>T
ENST00000528374.2:c.770C>T
ENST00000529967.6:n.2518C>T
ENST00000532220.2:n.3412C>T
ENST00000642611.2:n.5379C>T
ENST00000644057.2:n.622C>T
ENST00000645004.2:n.1678C>T
ENST00000682051.1:n.4341C>T
ENST00000682110.1:n.4394C>T
ENST00000682140.1:c.4045C>T	ENSP00000507829.1:p.His1349Tyr
ENST00000682185.1:n.5484C>T
ENST00000682204.1:c.*2317C>T	ENSP00000507094.1:n.*2317C>T
ENST00000682215.1:n.4761C>T
ENST00000682288.1:c.*2610C>T	ENSP00000507506.1:n.*2610C>T
ENST00000682442.1:n.4614C>T
ENST00000682528.1:n.4471C>T
ENST00000682673.1:n.4338C>T
ENST00000682805.1:n.4799C>T
ENST00000682965.1:c.*601C>T	ENSP00000508229.1:n.*601C>T
ENST00000683093.1:n.5478C>T
ENST00000683136.1:c.4062C>T	ENSP00000507768.1:p.Arg1354=
ENST00000683153.1:n.4436C>T
ENST00000683365.1:n.4496C>T
ENST00000683377.1:n.4394C>T
ENST00000683456.1:c.*1316C>T	ENSP00000508318.1:n.*1316C>T
ENST00000683522.1:n.4394C>T
ENST00000683562.1:c.*2348C>T	ENSP00000508265.1:n.*2348C>T
ENST00000683693.1:n.5826C>T
ENST00000683725.1:c.4179C>T	ENSP00000507496.1:p.Arg1393=
ENST00000684010.1:n.4389C>T
ENST00000684157.1:n.5379C>T
ENST00000684253.1:n.4297C>T
ENST00000684288.1:c.*2351C>T	ENSP00000507143.1:n.*2351C>T
ENST00000684313.1:n.3826C>T
ENST00000684332.1:n.4467C>T
ENST00000684371.1:n.4500C>T
ENST00000684404.1:n.5422C>T
ENST00000684442.1:n.4618C>T
ENST00000684555.1:c.*2391C>T	ENSP00000507705.1:n.*2391C>T
ENST00000684571.1:c.4020C>T	ENSP00000506935.1:p.Arg1340=
ENST00000684593.1:c.*3884C>T	ENSP00000507005.1:n.*3884C>T
ENST00000684711.1:c.*2575C>T	ENSP00000506841.1:n.*2575C>T
ENST00000302539.9:c.4182C>T	ENSP00000303960.4:p.Arg1394=
ENST00000389817.8:c.4179C>T MANE Select	ENSP00000374467.4:p.Arg1393=
ENST00000642271.1:c.4176C>T	ENSP00000493749.1:p.Arg1392=
ENST00000642579.1:c.2233C>T
ENST00000642611.1:n.5264C>T
ENST00000642902.1:c.3961C>T
ENST00000643260.1:c.4179C>T	ENSP00000494450.1:p.Arg1393=
ENST00000643562.1:c.*2301C>T	ENSP00000496124.1:n.*2301C>T
ENST00000643925.1:c.2819C>T
ENST00000644057.1:n.256C>T
ENST00000644484.1:c.*3565C>T	ENSP00000493558.1:n.*3565C>T
ENST00000644675.1:c.*2351C>T	ENSP00000494567.1:n.*2351C>T
ENST00000644757.1:c.*3202+393C>T	ENSP00000495085.1:n.*3202+393C>T
ENST00000644772.1:c.4245C>T	ENSP00000494321.1:p.Arg1415=
ENST00000645004.1:n.1872C>T
ENST00000645076.1:c.3378C>T
ENST00000645417.1:c.1367C>T
ENST00000645744.1:c.*3944C>T	ENSP00000494564.1:n.*3944C>T
ENST00000645760.1:c.4600C>T
ENST00000645884.1:c.*1462C>T	ENSP00000495516.1:n.*1462C>T
ENST00000646003.1:c.*2281C>T	ENSP00000495259.1:n.*2281C>T
ENST00000646207.1:c.*3016C>T	ENSP00000495025.1:n.*3016C>T
ENST00000646276.1:c.*3583C>T	ENSP00000496070.1:n.*3583C>T
ENST00000646592.1:c.3485C>T
ENST00000646902.1:c.4146C>T	ENSP00000494101.1:p.Arg1382=
ENST00000646993.1:c.*2721C>T	ENSP00000493720.1:n.*2721C>T
ENST00000647013.1:c.4185C>T	ENSP00000496741.1:n.4185C>T
ENST00000647015.1:c.3930C>T	ENSP00000495389.1:p.Arg1310=
ENST00000647086.1:c.*3765C>T	ENSP00000493677.1:n.*3765C>T
ENST00000647158.1:c.*2466C>T	ENSP00000495744.1:n.*2466C>T
ENST00000302539.8:c.4182C>T	ENSP00000303960.4:p.Arg1394=
ENST00000389817.7:c.4179C>T	ENSP00000374467.3:p.Arg1393=
ENST00000525022.1:n.45C>T
ENST00000526168.5:c.47C>T
ENST00000531642.5:c.15C>T
NM_000352.4:c.4179C>T	NP_000343.2:p.Arg1393=
NM_001287174.1:c.4182C>T	NP_001274103.1:p.Arg1394=
XM_011520331.1:c.4179C>T	XP_011518633.1:p.Arg1393=
XM_011520332.1:c.4182C>T	XP_011518634.1:p.Arg1394=
XM_011520333.1:c.2679C>T	XP_011518635.1:p.Arg893=
XR_930890.1:n.4245C>T
NM_001351295.1:c.4245C>T	NP_001338224.1:p.Arg1415=
NM_001351296.1:c.4179C>T	NP_001338225.1:p.Arg1393=
NM_001351297.1:c.4176C>T	NP_001338226.1:p.Arg1392=
NR_147094.1:n.4474C>T
XM_017018197.2:c.4248C>T	XP_016873686.1:p.Arg1416=
XM_017018199.1:c.4245C>T	XP_016873688.1:p.Arg1415=
XM_017018201.2:c.4248C>T	XP_016873690.1:p.Arg1416=
XM_017018202.1:c.2745C>T	XP_016873691.1:p.Arg915=
XM_017018204.1:c.2136C>T	XP_016873693.1:p.Arg712=
XM_024448668.1:c.2547C>T	XP_024304436.1:p.Arg849=
XR_001747945.2:n.4320C>T
XR_001747946.2:n.4251C>T
XR_002957189.1:n.5901C>T
NM_000352.6:c.4179C>T MANE Select	NP_000343.2:p.Arg1393=
NM_001287174.2:c.4182C>T	NP_001274103.1:p.Arg1394=
NM_001351295.2:c.4245C>T	NP_001338224.1:p.Arg1415=
NM_001351296.2:c.4179C>T	NP_001338225.1:p.Arg1393=
NM_001351297.2:c.4176C>T	NP_001338226.1:p.Arg1392=
NR_147094.2:n.4474C>T
NM_001287174.3:c.4182C>T	NP_001274103.1:p.Arg1394=