Canonical Allele Identifier: CA473300249

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428219G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406672G>C , CM000673.2:g.17406672G>C	GRCh38
NC_000011.9:g.17428219G>C , CM000673.1:g.17428219G>C	GRCh37
NC_000011.8:g.17384795G>C	NCBI36
NG_008867.1:g.75231C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2848C>G
ENST00000529967.6:n.1618C>G
ENST00000532220.2:n.1011C>G
ENST00000642611.2:n.3348C>G
ENST00000645004.2:n.778C>G
ENST00000682051.1:n.3295C>G
ENST00000682110.1:n.3348C>G
ENST00000682140.1:c.3276C>G	ENSP00000507829.1:p.Ala1092=
ENST00000682185.1:n.4584C>G
ENST00000682204.1:c.*1417C>G	ENSP00000507094.1:n.*1417C>G
ENST00000682215.1:n.3345C>G
ENST00000682288.1:c.*1710C>G	ENSP00000507506.1:n.*1710C>G
ENST00000682442.1:n.3568C>G
ENST00000682528.1:n.3425C>G
ENST00000682673.1:n.3292C>G
ENST00000682805.1:n.3345C>G
ENST00000682965.1:c.3276C>G	ENSP00000508229.1:p.Ala1092=
ENST00000683093.1:n.3447C>G
ENST00000683136.1:c.3276C>G	ENSP00000507768.1:p.Ala1092=
ENST00000683153.1:n.3504C>G
ENST00000683365.1:n.3450C>G
ENST00000683377.1:n.3348C>G
ENST00000683456.1:c.*416C>G	ENSP00000508318.1:n.*416C>G
ENST00000683522.1:n.3348C>G
ENST00000683562.1:c.*1448C>G	ENSP00000508265.1:n.*1448C>G
ENST00000683693.1:n.3425C>G
ENST00000683725.1:c.3279C>G	ENSP00000507496.1:p.Ala1093=
ENST00000684010.1:n.3343C>G
ENST00000684157.1:n.3348C>G
ENST00000684253.1:n.3251C>G
ENST00000684288.1:c.*1451C>G	ENSP00000507143.1:n.*1451C>G
ENST00000684313.1:n.2780C>G
ENST00000684332.1:n.3421C>G
ENST00000684371.1:n.3454C>G
ENST00000684404.1:n.3391C>G
ENST00000684442.1:n.3348C>G
ENST00000684555.1:c.*1491C>G	ENSP00000507705.1:n.*1491C>G
ENST00000684571.1:c.3120C>G	ENSP00000506935.1:p.Ala1040=
ENST00000684593.1:c.*2984C>G	ENSP00000507005.1:n.*2984C>G
ENST00000684711.1:c.*1675C>G	ENSP00000506841.1:n.*1675C>G
ENST00000302539.9:c.3282C>G	ENSP00000303960.4:p.Ala1094=
ENST00000389817.8:c.3279C>G MANE Select	ENSP00000374467.4:p.Ala1093=
ENST00000642271.1:c.3276C>G	ENSP00000493749.1:p.Ala1092=
ENST00000642579.1:c.1363C>G
ENST00000642611.1:n.3233C>G
ENST00000642902.1:c.3061C>G
ENST00000643260.1:c.3279C>G	ENSP00000494450.1:p.Ala1093=
ENST00000643562.1:c.*1255C>G	ENSP00000496124.1:n.*1255C>G
ENST00000643925.1:c.1403C>G
ENST00000644447.1:c.1635C>G	ENSP00000496282.1:p.Ala545=
ENST00000644484.1:c.*1534C>G	ENSP00000493558.1:n.*1534C>G
ENST00000644542.1:c.*3083C>G	ENSP00000495532.1:n.*3083C>G
ENST00000644675.1:c.*1451C>G	ENSP00000494567.1:n.*1451C>G
ENST00000644757.1:c.*1564C>G	ENSP00000495085.1:n.*1564C>G
ENST00000644772.1:c.3345C>G	ENSP00000494321.1:p.Ala1115=
ENST00000645004.1:n.418C>G
ENST00000645076.1:c.2478C>G
ENST00000645417.1:c.445C>G
ENST00000645744.1:c.*1543C>G	ENSP00000494564.1:n.*1543C>G
ENST00000645760.1:c.3554C>G
ENST00000645884.1:c.*416C>G	ENSP00000495516.1:n.*416C>G
ENST00000646003.1:c.*1235C>G	ENSP00000495259.1:n.*1235C>G
ENST00000646207.1:c.*1746C>G	ENSP00000495025.1:n.*1746C>G
ENST00000646276.1:c.*1552C>G	ENSP00000496070.1:n.*1552C>G
ENST00000646592.1:c.2585C>G
ENST00000646902.1:c.3276C>G	ENSP00000494101.1:p.Ala1092=
ENST00000646993.1:c.*1675C>G	ENSP00000493720.1:n.*1675C>G
ENST00000647013.1:c.3285C>G	ENSP00000496741.1:n.3285C>G
ENST00000647015.1:c.3030C>G	ENSP00000495389.1:p.Ala1010=
ENST00000647086.1:c.*3009C>G	ENSP00000493677.1:n.*3009C>G
ENST00000647158.1:c.*1420C>G	ENSP00000495744.1:n.*1420C>G
ENST00000302539.8:c.3282C>G	ENSP00000303960.4:p.Ala1094=
ENST00000389817.7:c.3279C>G	ENSP00000374467.3:p.Ala1093=
ENST00000524561.1:n.411C>G
ENST00000527905.5:c.*155C>G	ENSP00000431653.1:n.*155C>G
NM_000352.4:c.3279C>G	NP_000343.2:p.Ala1093=
NM_001287174.1:c.3282C>G	NP_001274103.1:p.Ala1094=
XM_011520331.1:c.3279C>G	XP_011518633.1:p.Ala1093=
XM_011520332.1:c.3282C>G	XP_011518634.1:p.Ala1094=
XM_011520333.1:c.1779C>G	XP_011518635.1:p.Ala593=
XR_930890.1:n.3345C>G
XR_930891.1:n.3345C>G
XR_930892.1:n.3245C>G
XR_930893.1:n.3242C>G
NM_001351295.1:c.3345C>G	NP_001338224.1:p.Ala1115=
NM_001351296.1:c.3279C>G	NP_001338225.1:p.Ala1093=
NM_001351297.1:c.3276C>G	NP_001338226.1:p.Ala1092=
NR_147094.1:n.3428C>G
XM_017018197.2:c.3348C>G	XP_016873686.1:p.Ala1116=
XM_017018199.1:c.3345C>G	XP_016873688.1:p.Ala1115=
XM_017018201.2:c.3348C>G	XP_016873690.1:p.Ala1116=
XM_017018202.1:c.1845C>G	XP_016873691.1:p.Ala615=
XM_017018204.1:c.1236C>G	XP_016873693.1:p.Ala412=
XM_024448668.1:c.1647C>G	XP_024304436.1:p.Ala549=
XR_001747945.2:n.3420C>G
XR_001747946.2:n.3351C>G
XR_002957189.1:n.3500C>G
NM_000352.6:c.3279C>G MANE Select	NP_000343.2:p.Ala1093=
NM_001287174.2:c.3282C>G	NP_001274103.1:p.Ala1094=
NM_001351295.2:c.3345C>G	NP_001338224.1:p.Ala1115=
NM_001351296.2:c.3279C>G	NP_001338225.1:p.Ala1093=
NM_001351297.2:c.3276C>G	NP_001338226.1:p.Ala1092=
NR_147094.2:n.3428C>G
NM_001287174.3:c.3282C>G	NP_001274103.1:p.Ala1094=