Canonical Allele Identifier: CA473298293

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417430A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395883A>T , CM000673.2:g.17395883A>T	GRCh38
NC_000011.9:g.17417430A>T , CM000673.1:g.17417430A>T	GRCh37
NC_000011.8:g.17374006A>T	NCBI36
NG_008867.1:g.86020T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3768T>A
ENST00000528374.2:c.758T>A
ENST00000529967.6:n.2506T>A
ENST00000532220.2:n.3400T>A
ENST00000642611.2:n.5367T>A
ENST00000644057.2:n.610T>A
ENST00000645004.2:n.1666T>A
ENST00000682051.1:n.4329T>A
ENST00000682110.1:n.4382T>A
ENST00000682140.1:c.4033T>A	ENSP00000507829.1:p.Cys1345Ser
ENST00000682185.1:n.5472T>A
ENST00000682204.1:c.*2305T>A	ENSP00000507094.1:n.*2305T>A
ENST00000682215.1:n.4749T>A
ENST00000682288.1:c.*2598T>A	ENSP00000507506.1:n.*2598T>A
ENST00000682442.1:n.4602T>A
ENST00000682528.1:n.4459T>A
ENST00000682673.1:n.4326T>A
ENST00000682805.1:n.4787T>A
ENST00000682965.1:c.*589T>A	ENSP00000508229.1:n.*589T>A
ENST00000683093.1:n.5466T>A
ENST00000683136.1:c.4050T>A	ENSP00000507768.1:p.Leu1350=
ENST00000683153.1:n.4424T>A
ENST00000683365.1:n.4484T>A
ENST00000683377.1:n.4382T>A
ENST00000683456.1:c.*1304T>A	ENSP00000508318.1:n.*1304T>A
ENST00000683522.1:n.4382T>A
ENST00000683562.1:c.*2336T>A	ENSP00000508265.1:n.*2336T>A
ENST00000683693.1:n.5814T>A
ENST00000683725.1:c.4167T>A	ENSP00000507496.1:p.Leu1389=
ENST00000684010.1:n.4377T>A
ENST00000684157.1:n.5367T>A
ENST00000684253.1:n.4285T>A
ENST00000684288.1:c.*2339T>A	ENSP00000507143.1:n.*2339T>A
ENST00000684313.1:n.3814T>A
ENST00000684332.1:n.4455T>A
ENST00000684371.1:n.4488T>A
ENST00000684404.1:n.5410T>A
ENST00000684442.1:n.4606T>A
ENST00000684555.1:c.*2379T>A	ENSP00000507705.1:n.*2379T>A
ENST00000684571.1:c.4008T>A	ENSP00000506935.1:p.Leu1336=
ENST00000684593.1:c.*3872T>A	ENSP00000507005.1:n.*3872T>A
ENST00000684711.1:c.*2563T>A	ENSP00000506841.1:n.*2563T>A
ENST00000302539.9:c.4170T>A	ENSP00000303960.4:p.Leu1390=
ENST00000389817.8:c.4167T>A MANE Select	ENSP00000374467.4:p.Leu1389=
ENST00000642271.1:c.4164T>A	ENSP00000493749.1:p.Leu1388=
ENST00000642579.1:c.2221T>A
ENST00000642611.1:n.5252T>A
ENST00000642902.1:c.3949T>A
ENST00000643260.1:c.4167T>A	ENSP00000494450.1:p.Leu1389=
ENST00000643562.1:c.*2289T>A	ENSP00000496124.1:n.*2289T>A
ENST00000643925.1:c.2807T>A
ENST00000644057.1:n.244T>A
ENST00000644484.1:c.*3553T>A	ENSP00000493558.1:n.*3553T>A
ENST00000644675.1:c.*2339T>A	ENSP00000494567.1:n.*2339T>A
ENST00000644757.1:c.*3202+381T>A	ENSP00000495085.1:n.*3202+381T>A
ENST00000644772.1:c.4233T>A	ENSP00000494321.1:p.Leu1411=
ENST00000645004.1:n.1860T>A
ENST00000645076.1:c.3366T>A
ENST00000645417.1:c.1355T>A
ENST00000645744.1:c.*3932T>A	ENSP00000494564.1:n.*3932T>A
ENST00000645760.1:c.4588T>A
ENST00000645884.1:c.*1450T>A	ENSP00000495516.1:n.*1450T>A
ENST00000646003.1:c.*2269T>A	ENSP00000495259.1:n.*2269T>A
ENST00000646207.1:c.*3004T>A	ENSP00000495025.1:n.*3004T>A
ENST00000646276.1:c.*3571T>A	ENSP00000496070.1:n.*3571T>A
ENST00000646592.1:c.3473T>A
ENST00000646902.1:c.4134T>A	ENSP00000494101.1:p.Leu1378=
ENST00000646993.1:c.*2709T>A	ENSP00000493720.1:n.*2709T>A
ENST00000647013.1:c.4173T>A	ENSP00000496741.1:n.4173T>A
ENST00000647015.1:c.3918T>A	ENSP00000495389.1:p.Leu1306=
ENST00000647086.1:c.*3753T>A	ENSP00000493677.1:n.*3753T>A
ENST00000647158.1:c.*2454T>A	ENSP00000495744.1:n.*2454T>A
ENST00000302539.8:c.4170T>A	ENSP00000303960.4:p.Leu1390=
ENST00000389817.7:c.4167T>A	ENSP00000374467.3:p.Leu1389=
ENST00000525022.1:n.33T>A
ENST00000526168.5:c.35T>A
ENST00000531642.5:c.3T>A
NM_000352.4:c.4167T>A	NP_000343.2:p.Leu1389=
NM_001287174.1:c.4170T>A	NP_001274103.1:p.Leu1390=
XM_011520331.1:c.4167T>A	XP_011518633.1:p.Leu1389=
XM_011520332.1:c.4170T>A	XP_011518634.1:p.Leu1390=
XM_011520333.1:c.2667T>A	XP_011518635.1:p.Leu889=
XR_930890.1:n.4233T>A
NM_001351295.1:c.4233T>A	NP_001338224.1:p.Leu1411=
NM_001351296.1:c.4167T>A	NP_001338225.1:p.Leu1389=
NM_001351297.1:c.4164T>A	NP_001338226.1:p.Leu1388=
NR_147094.1:n.4462T>A
XM_017018197.2:c.4236T>A	XP_016873686.1:p.Leu1412=
XM_017018199.1:c.4233T>A	XP_016873688.1:p.Leu1411=
XM_017018201.2:c.4236T>A	XP_016873690.1:p.Leu1412=
XM_017018202.1:c.2733T>A	XP_016873691.1:p.Leu911=
XM_017018204.1:c.2124T>A	XP_016873693.1:p.Leu708=
XM_024448668.1:c.2535T>A	XP_024304436.1:p.Leu845=
XR_001747945.2:n.4308T>A
XR_001747946.2:n.4239T>A
XR_002957189.1:n.5889T>A
NM_000352.6:c.4167T>A MANE Select	NP_000343.2:p.Leu1389=
NM_001287174.2:c.4170T>A	NP_001274103.1:p.Leu1390=
NM_001351295.2:c.4233T>A	NP_001338224.1:p.Leu1411=
NM_001351296.2:c.4167T>A	NP_001338225.1:p.Leu1389=
NM_001351297.2:c.4164T>A	NP_001338226.1:p.Leu1388=
NR_147094.2:n.4462T>A
NM_001287174.3:c.4170T>A	NP_001274103.1:p.Leu1390=