Canonical Allele Identifier: CA379803835

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428571A>C (hg19) ; chr11:g.17407024A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17407024A>C , CM000673.2:g.17407024A>C	GRCh38
NC_000011.9:g.17428571A>C , CM000673.1:g.17428571A>C	GRCh37
NC_000011.8:g.17385147A>C	NCBI36
NG_008867.1:g.74879T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2595T>G
ENST00000529967.6:n.1365T>G
ENST00000532220.2:n.758T>G
ENST00000642611.2:n.3095T>G
ENST00000645004.2:n.525T>G
ENST00000682051.1:n.3042T>G
ENST00000682110.1:n.3095T>G
ENST00000682140.1:c.3023T>G	ENSP00000507829.1:p.Ile1008Ser
ENST00000682185.1:n.4331T>G
ENST00000682204.1:c.*1164T>G	ENSP00000507094.1:n.*1164T>G
ENST00000682215.1:n.3092T>G
ENST00000682288.1:c.*1457T>G	ENSP00000507506.1:n.*1457T>G
ENST00000682442.1:n.3216T>G
ENST00000682528.1:n.3172T>G
ENST00000682673.1:n.3039T>G
ENST00000682805.1:n.3092T>G
ENST00000682965.1:c.3023T>G	ENSP00000508229.1:p.Ile1008Ser
ENST00000683093.1:n.3194T>G
ENST00000683136.1:c.3023T>G	ENSP00000507768.1:p.Ile1008Ser
ENST00000683153.1:n.3251T>G
ENST00000683365.1:n.3197T>G
ENST00000683377.1:n.3095T>G
ENST00000683456.1:c.*163T>G	ENSP00000508318.1:n.*163T>G
ENST00000683522.1:n.3095T>G
ENST00000683562.1:c.*1195T>G	ENSP00000508265.1:n.*1195T>G
ENST00000683693.1:n.3172T>G
ENST00000683725.1:c.3026T>G	ENSP00000507496.1:p.Ile1009Ser
ENST00000684010.1:n.3090T>G
ENST00000684157.1:n.3095T>G
ENST00000684253.1:n.2998T>G
ENST00000684288.1:c.*1198T>G	ENSP00000507143.1:n.*1198T>G
ENST00000684313.1:n.2527T>G
ENST00000684332.1:n.3168T>G
ENST00000684371.1:n.3201T>G
ENST00000684404.1:n.3138T>G
ENST00000684442.1:n.3095T>G
ENST00000684555.1:c.*1238T>G	ENSP00000507705.1:n.*1238T>G
ENST00000684571.1:c.2867T>G	ENSP00000506935.1:p.Ile956Ser
ENST00000684593.1:c.*2731T>G	ENSP00000507005.1:n.*2731T>G
ENST00000684711.1:c.*1422T>G	ENSP00000506841.1:n.*1422T>G
ENST00000302539.9:c.3029T>G	ENSP00000303960.4:p.Ile1010Ser
ENST00000389817.8:c.3026T>G MANE Select	ENSP00000374467.4:p.Ile1009Ser
ENST00000642271.1:c.3023T>G	ENSP00000493749.1:p.Ile1008Ser
ENST00000642579.1:c.1110T>G
ENST00000642611.1:n.2980T>G
ENST00000642902.1:c.2808T>G
ENST00000643260.1:c.3026T>G	ENSP00000494450.1:p.Ile1009Ser
ENST00000643562.1:c.*1002T>G	ENSP00000496124.1:n.*1002T>G
ENST00000643925.1:c.1150T>G
ENST00000644447.1:c.1382T>G	ENSP00000496282.1:p.Ile461Ser
ENST00000644484.1:c.*1281T>G	ENSP00000493558.1:n.*1281T>G
ENST00000644542.1:c.*2731T>G	ENSP00000495532.1:n.*2731T>G
ENST00000644675.1:c.*1198T>G	ENSP00000494567.1:n.*1198T>G
ENST00000644757.1:c.*1311T>G	ENSP00000495085.1:n.*1311T>G
ENST00000644772.1:c.3092T>G	ENSP00000494321.1:p.Ile1031Ser
ENST00000645004.1:n.165T>G
ENST00000645076.1:c.2225T>G
ENST00000645417.1:c.192T>G
ENST00000645744.1:c.*1290T>G	ENSP00000494564.1:n.*1290T>G
ENST00000645760.1:c.3301T>G
ENST00000645884.1:c.*163T>G	ENSP00000495516.1:n.*163T>G
ENST00000646003.1:c.*982T>G	ENSP00000495259.1:n.*982T>G
ENST00000646207.1:c.*1493T>G	ENSP00000495025.1:n.*1493T>G
ENST00000646276.1:c.*1299T>G	ENSP00000496070.1:n.*1299T>G
ENST00000646592.1:c.2332T>G
ENST00000646902.1:c.3023T>G	ENSP00000494101.1:p.Ile1008Ser
ENST00000646993.1:c.*1422T>G	ENSP00000493720.1:n.*1422T>G
ENST00000647013.1:c.3032T>G	ENSP00000496741.1:n.3032T>G
ENST00000647015.1:c.2777T>G	ENSP00000495389.1:p.Ile926Ser
ENST00000647086.1:c.*2756T>G	ENSP00000493677.1:n.*2756T>G
ENST00000647158.1:c.*1167T>G	ENSP00000495744.1:n.*1167T>G
ENST00000302539.8:c.3029T>G	ENSP00000303960.4:p.Ile1010Ser
ENST00000389817.7:c.3026T>G	ENSP00000374467.3:p.Ile1009Ser
ENST00000524561.1:n.158T>G
ENST00000526921.5:n.710T>G
ENST00000527905.5:c.2896T>G	ENSP00000431653.1:p.Ser966Ala
ENST00000529967.5:n.695T>G
NM_000352.4:c.3026T>G	NP_000343.2:p.Ile1009Ser
NM_001287174.1:c.3029T>G	NP_001274103.1:p.Ile1010Ser
XM_011520331.1:c.3026T>G	XP_011518633.1:p.Ile1009Ser
XM_011520332.1:c.3029T>G	XP_011518634.1:p.Ile1010Ser
XM_011520333.1:c.1526T>G	XP_011518635.1:p.Ile509Ser
XR_930890.1:n.3092T>G
XR_930891.1:n.3092T>G
XR_930892.1:n.2992T>G
XR_930893.1:n.2989T>G
NM_001351295.1:c.3092T>G	NP_001338224.1:p.Ile1031Ser
NM_001351296.1:c.3026T>G	NP_001338225.1:p.Ile1009Ser
NM_001351297.1:c.3023T>G	NP_001338226.1:p.Ile1008Ser
NR_147094.1:n.3175T>G
XM_017018197.2:c.3095T>G	XP_016873686.1:p.Ile1032Ser
XM_017018199.1:c.3092T>G	XP_016873688.1:p.Ile1031Ser
XM_017018201.2:c.3095T>G	XP_016873690.1:p.Ile1032Ser
XM_017018202.1:c.1592T>G	XP_016873691.1:p.Ile531Ser
XM_017018204.1:c.983T>G	XP_016873693.1:p.Ile328Ser
XM_024448668.1:c.1394T>G	XP_024304436.1:p.Ile465Ser
XR_001747945.2:n.3167T>G
XR_001747946.2:n.3098T>G
XR_002957189.1:n.3247T>G
NM_000352.6:c.3026T>G MANE Select	NP_000343.2:p.Ile1009Ser
NM_001287174.2:c.3029T>G	NP_001274103.1:p.Ile1010Ser
NM_001351295.2:c.3092T>G	NP_001338224.1:p.Ile1031Ser
NM_001351296.2:c.3026T>G	NP_001338225.1:p.Ile1009Ser
NM_001351297.2:c.3023T>G	NP_001338226.1:p.Ile1008Ser
NR_147094.2:n.3175T>G
NM_001287174.3:c.3029T>G	NP_001274103.1:p.Ile1010Ser