Canonical Allele Identifier: CA379802776

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428253G>A (hg19) ; chr11:g.17406706G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406706G>A , CM000673.2:g.17406706G>A	GRCh38
NC_000011.9:g.17428253G>A , CM000673.1:g.17428253G>A	GRCh37
NC_000011.8:g.17384829G>A	NCBI36
NG_008867.1:g.75197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2814C>T
ENST00000529967.6:n.1584C>T
ENST00000532220.2:n.977C>T
ENST00000642611.2:n.3314C>T
ENST00000645004.2:n.744C>T
ENST00000682051.1:n.3261C>T
ENST00000682110.1:n.3314C>T
ENST00000682140.1:c.3242C>T	ENSP00000507829.1:p.Ser1081Phe
ENST00000682185.1:n.4550C>T
ENST00000682204.1:c.*1383C>T	ENSP00000507094.1:n.*1383C>T
ENST00000682215.1:n.3311C>T
ENST00000682288.1:c.*1676C>T	ENSP00000507506.1:n.*1676C>T
ENST00000682442.1:n.3534C>T
ENST00000682528.1:n.3391C>T
ENST00000682673.1:n.3258C>T
ENST00000682805.1:n.3311C>T
ENST00000682965.1:c.3242C>T	ENSP00000508229.1:p.Ser1081Phe
ENST00000683093.1:n.3413C>T
ENST00000683136.1:c.3242C>T	ENSP00000507768.1:p.Ser1081Phe
ENST00000683153.1:n.3470C>T
ENST00000683365.1:n.3416C>T
ENST00000683377.1:n.3314C>T
ENST00000683456.1:c.*382C>T	ENSP00000508318.1:n.*382C>T
ENST00000683522.1:n.3314C>T
ENST00000683562.1:c.*1414C>T	ENSP00000508265.1:n.*1414C>T
ENST00000683693.1:n.3391C>T
ENST00000683725.1:c.3245C>T	ENSP00000507496.1:p.Ser1082Phe
ENST00000684010.1:n.3309C>T
ENST00000684157.1:n.3314C>T
ENST00000684253.1:n.3217C>T
ENST00000684288.1:c.*1417C>T	ENSP00000507143.1:n.*1417C>T
ENST00000684313.1:n.2746C>T
ENST00000684332.1:n.3387C>T
ENST00000684371.1:n.3420C>T
ENST00000684404.1:n.3357C>T
ENST00000684442.1:n.3314C>T
ENST00000684555.1:c.*1457C>T	ENSP00000507705.1:n.*1457C>T
ENST00000684571.1:c.3086C>T	ENSP00000506935.1:p.Ser1029Phe
ENST00000684593.1:c.*2950C>T	ENSP00000507005.1:n.*2950C>T
ENST00000684711.1:c.*1641C>T	ENSP00000506841.1:n.*1641C>T
ENST00000302539.9:c.3248C>T	ENSP00000303960.4:p.Ser1083Phe
ENST00000389817.8:c.3245C>T MANE Select	ENSP00000374467.4:p.Ser1082Phe
ENST00000642271.1:c.3242C>T	ENSP00000493749.1:p.Ser1081Phe
ENST00000642579.1:c.1329C>T
ENST00000642611.1:n.3199C>T
ENST00000642902.1:c.3027C>T
ENST00000643260.1:c.3245C>T	ENSP00000494450.1:p.Ser1082Phe
ENST00000643562.1:c.*1221C>T	ENSP00000496124.1:n.*1221C>T
ENST00000643925.1:c.1369C>T
ENST00000644447.1:c.1601C>T	ENSP00000496282.1:p.Ser534Phe
ENST00000644484.1:c.*1500C>T	ENSP00000493558.1:n.*1500C>T
ENST00000644542.1:c.*3049C>T	ENSP00000495532.1:n.*3049C>T
ENST00000644675.1:c.*1417C>T	ENSP00000494567.1:n.*1417C>T
ENST00000644757.1:c.*1530C>T	ENSP00000495085.1:n.*1530C>T
ENST00000644772.1:c.3311C>T	ENSP00000494321.1:p.Ser1104Phe
ENST00000645004.1:n.384C>T
ENST00000645076.1:c.2444C>T
ENST00000645417.1:c.411C>T
ENST00000645744.1:c.*1509C>T	ENSP00000494564.1:n.*1509C>T
ENST00000645760.1:c.3520C>T
ENST00000645884.1:c.*382C>T	ENSP00000495516.1:n.*382C>T
ENST00000646003.1:c.*1201C>T	ENSP00000495259.1:n.*1201C>T
ENST00000646207.1:c.*1712C>T	ENSP00000495025.1:n.*1712C>T
ENST00000646276.1:c.*1518C>T	ENSP00000496070.1:n.*1518C>T
ENST00000646592.1:c.2551C>T
ENST00000646902.1:c.3242C>T	ENSP00000494101.1:p.Ser1081Phe
ENST00000646993.1:c.*1641C>T	ENSP00000493720.1:n.*1641C>T
ENST00000647013.1:c.3251C>T	ENSP00000496741.1:n.3251C>T
ENST00000647015.1:c.2996C>T	ENSP00000495389.1:p.Ser999Phe
ENST00000647086.1:c.*2975C>T	ENSP00000493677.1:n.*2975C>T
ENST00000647158.1:c.*1386C>T	ENSP00000495744.1:n.*1386C>T
ENST00000302539.8:c.3248C>T	ENSP00000303960.4:p.Ser1083Phe
ENST00000389817.7:c.3245C>T	ENSP00000374467.3:p.Ser1082Phe
ENST00000524561.1:n.377C>T
ENST00000526921.5:n.929C>T
ENST00000527905.5:c.*121C>T	ENSP00000431653.1:n.*121C>T
NM_000352.4:c.3245C>T	NP_000343.2:p.Ser1082Phe
NM_001287174.1:c.3248C>T	NP_001274103.1:p.Ser1083Phe
XM_011520331.1:c.3245C>T	XP_011518633.1:p.Ser1082Phe
XM_011520332.1:c.3248C>T	XP_011518634.1:p.Ser1083Phe
XM_011520333.1:c.1745C>T	XP_011518635.1:p.Ser582Phe
XR_930890.1:n.3311C>T
XR_930891.1:n.3311C>T
XR_930892.1:n.3211C>T
XR_930893.1:n.3208C>T
NM_001351295.1:c.3311C>T	NP_001338224.1:p.Ser1104Phe
NM_001351296.1:c.3245C>T	NP_001338225.1:p.Ser1082Phe
NM_001351297.1:c.3242C>T	NP_001338226.1:p.Ser1081Phe
NR_147094.1:n.3394C>T
XM_017018197.2:c.3314C>T	XP_016873686.1:p.Ser1105Phe
XM_017018199.1:c.3311C>T	XP_016873688.1:p.Ser1104Phe
XM_017018201.2:c.3314C>T	XP_016873690.1:p.Ser1105Phe
XM_017018202.1:c.1811C>T	XP_016873691.1:p.Ser604Phe
XM_017018204.1:c.1202C>T	XP_016873693.1:p.Ser401Phe
XM_024448668.1:c.1613C>T	XP_024304436.1:p.Ser538Phe
XR_001747945.2:n.3386C>T
XR_001747946.2:n.3317C>T
XR_002957189.1:n.3466C>T
NM_000352.6:c.3245C>T MANE Select	NP_000343.2:p.Ser1082Phe
NM_001287174.2:c.3248C>T	NP_001274103.1:p.Ser1083Phe
NM_001351295.2:c.3311C>T	NP_001338224.1:p.Ser1104Phe
NM_001351296.2:c.3245C>T	NP_001338225.1:p.Ser1082Phe
NM_001351297.2:c.3242C>T	NP_001338226.1:p.Ser1081Phe
NR_147094.2:n.3394C>T
NM_001287174.3:c.3248C>T	NP_001274103.1:p.Ser1083Phe