Canonical Allele Identifier: CA379788090

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417435A>G (hg19) ; chr11:g.17395888A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395888A>G , CM000673.2:g.17395888A>G	GRCh38
NC_000011.9:g.17417435A>G , CM000673.1:g.17417435A>G	GRCh37
NC_000011.8:g.17374011A>G	NCBI36
NG_008867.1:g.86015T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3763T>C
ENST00000528374.2:c.753T>C
ENST00000529967.6:n.2501T>C
ENST00000532220.2:n.3395T>C
ENST00000642611.2:n.5362T>C
ENST00000644057.2:n.605T>C
ENST00000645004.2:n.1661T>C
ENST00000682051.1:n.4324T>C
ENST00000682110.1:n.4377T>C
ENST00000682140.1:c.4028T>C	ENSP00000507829.1:p.Leu1343Pro
ENST00000682185.1:n.5467T>C
ENST00000682204.1:c.*2300T>C	ENSP00000507094.1:n.*2300T>C
ENST00000682215.1:n.4744T>C
ENST00000682288.1:c.*2593T>C	ENSP00000507506.1:n.*2593T>C
ENST00000682442.1:n.4597T>C
ENST00000682528.1:n.4454T>C
ENST00000682673.1:n.4321T>C
ENST00000682805.1:n.4782T>C
ENST00000682965.1:c.*584T>C	ENSP00000508229.1:n.*584T>C
ENST00000683093.1:n.5461T>C
ENST00000683136.1:c.4045T>C	ENSP00000507768.1:p.Ser1349Pro
ENST00000683153.1:n.4419T>C
ENST00000683365.1:n.4479T>C
ENST00000683377.1:n.4377T>C
ENST00000683456.1:c.*1299T>C	ENSP00000508318.1:n.*1299T>C
ENST00000683522.1:n.4377T>C
ENST00000683562.1:c.*2331T>C	ENSP00000508265.1:n.*2331T>C
ENST00000683693.1:n.5809T>C
ENST00000683725.1:c.4162T>C	ENSP00000507496.1:p.Ser1388Pro
ENST00000684010.1:n.4372T>C
ENST00000684157.1:n.5362T>C
ENST00000684253.1:n.4280T>C
ENST00000684288.1:c.*2334T>C	ENSP00000507143.1:n.*2334T>C
ENST00000684313.1:n.3809T>C
ENST00000684332.1:n.4450T>C
ENST00000684371.1:n.4483T>C
ENST00000684404.1:n.5405T>C
ENST00000684442.1:n.4601T>C
ENST00000684555.1:c.*2374T>C	ENSP00000507705.1:n.*2374T>C
ENST00000684571.1:c.4003T>C	ENSP00000506935.1:p.Ser1335Pro
ENST00000684593.1:c.*3867T>C	ENSP00000507005.1:n.*3867T>C
ENST00000684711.1:c.*2558T>C	ENSP00000506841.1:n.*2558T>C
ENST00000302539.9:c.4165T>C	ENSP00000303960.4:p.Ser1389Pro
ENST00000389817.8:c.4162T>C MANE Select	ENSP00000374467.4:p.Ser1388Pro
ENST00000642271.1:c.4159T>C	ENSP00000493749.1:p.Ser1387Pro
ENST00000642579.1:c.2216T>C
ENST00000642611.1:n.5247T>C
ENST00000642902.1:c.3944T>C
ENST00000643260.1:c.4162T>C	ENSP00000494450.1:p.Ser1388Pro
ENST00000643562.1:c.*2284T>C	ENSP00000496124.1:n.*2284T>C
ENST00000643925.1:c.2802T>C
ENST00000644057.1:n.239T>C
ENST00000644484.1:c.*3548T>C	ENSP00000493558.1:n.*3548T>C
ENST00000644675.1:c.*2334T>C	ENSP00000494567.1:n.*2334T>C
ENST00000644757.1:c.*3202+376T>C	ENSP00000495085.1:n.*3202+376T>C
ENST00000644772.1:c.4228T>C	ENSP00000494321.1:p.Ser1410Pro
ENST00000645004.1:n.1855T>C
ENST00000645076.1:c.3361T>C
ENST00000645417.1:c.1350T>C
ENST00000645744.1:c.*3927T>C	ENSP00000494564.1:n.*3927T>C
ENST00000645760.1:c.4583T>C
ENST00000645884.1:c.*1445T>C	ENSP00000495516.1:n.*1445T>C
ENST00000646003.1:c.*2264T>C	ENSP00000495259.1:n.*2264T>C
ENST00000646207.1:c.*2999T>C	ENSP00000495025.1:n.*2999T>C
ENST00000646276.1:c.*3566T>C	ENSP00000496070.1:n.*3566T>C
ENST00000646592.1:c.3468T>C
ENST00000646902.1:c.4129T>C	ENSP00000494101.1:p.Ser1377Pro
ENST00000646993.1:c.*2704T>C	ENSP00000493720.1:n.*2704T>C
ENST00000647013.1:c.4168T>C	ENSP00000496741.1:n.4168T>C
ENST00000647015.1:c.3913T>C	ENSP00000495389.1:p.Ser1305Pro
ENST00000647086.1:c.*3748T>C	ENSP00000493677.1:n.*3748T>C
ENST00000647158.1:c.*2449T>C	ENSP00000495744.1:n.*2449T>C
ENST00000302539.8:c.4165T>C	ENSP00000303960.4:p.Ser1389Pro
ENST00000389817.7:c.4162T>C	ENSP00000374467.3:p.Ser1388Pro
ENST00000525022.1:n.28T>C
ENST00000526168.5:c.30T>C
NM_000352.4:c.4162T>C	NP_000343.2:p.Ser1388Pro
NM_001287174.1:c.4165T>C	NP_001274103.1:p.Ser1389Pro
XM_011520331.1:c.4162T>C	XP_011518633.1:p.Ser1388Pro
XM_011520332.1:c.4165T>C	XP_011518634.1:p.Ser1389Pro
XM_011520333.1:c.2662T>C	XP_011518635.1:p.Ser888Pro
XR_930890.1:n.4228T>C
NM_001351295.1:c.4228T>C	NP_001338224.1:p.Ser1410Pro
NM_001351296.1:c.4162T>C	NP_001338225.1:p.Ser1388Pro
NM_001351297.1:c.4159T>C	NP_001338226.1:p.Ser1387Pro
NR_147094.1:n.4457T>C
XM_017018197.2:c.4231T>C	XP_016873686.1:p.Ser1411Pro
XM_017018199.1:c.4228T>C	XP_016873688.1:p.Ser1410Pro
XM_017018201.2:c.4231T>C	XP_016873690.1:p.Ser1411Pro
XM_017018202.1:c.2728T>C	XP_016873691.1:p.Ser910Pro
XM_017018204.1:c.2119T>C	XP_016873693.1:p.Ser707Pro
XM_024448668.1:c.2530T>C	XP_024304436.1:p.Ser844Pro
XR_001747945.2:n.4303T>C
XR_001747946.2:n.4234T>C
XR_002957189.1:n.5884T>C
NM_000352.6:c.4162T>C MANE Select	NP_000343.2:p.Ser1388Pro
NM_001287174.2:c.4165T>C	NP_001274103.1:p.Ser1389Pro
NM_001351295.2:c.4228T>C	NP_001338224.1:p.Ser1410Pro
NM_001351296.2:c.4162T>C	NP_001338225.1:p.Ser1388Pro
NM_001351297.2:c.4159T>C	NP_001338226.1:p.Ser1387Pro
NR_147094.2:n.4457T>C
NM_001287174.3:c.4165T>C	NP_001274103.1:p.Ser1389Pro