Canonical Allele Identifier: CA473299678

Gene: ABCC8

Linked Data

• COSMIC: COSM3445820
• MyVariant Identifiers: chr11:g.17426145G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404598G>A , CM000673.2:g.17404598G>A	GRCh38
NC_000011.9:g.17426145G>A , CM000673.1:g.17426145G>A	GRCh37
NC_000011.8:g.17382721G>A	NCBI36
NG_008867.1:g.77305C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3040C>T
ENST00000528374.2:c.50C>T
ENST00000529967.6:n.1810C>T
ENST00000532220.2:n.1203C>T
ENST00000642611.2:n.3540C>T
ENST00000645004.2:n.970C>T
ENST00000682051.1:n.3487C>T
ENST00000682110.1:n.3540C>T
ENST00000682140.1:c.3468C>T	ENSP00000507829.1:p.Ser1156=
ENST00000682185.1:n.4776C>T
ENST00000682204.1:c.*1609C>T	ENSP00000507094.1:n.*1609C>T
ENST00000682215.1:n.3537C>T
ENST00000682288.1:c.*1902C>T	ENSP00000507506.1:n.*1902C>T
ENST00000682442.1:n.3760C>T
ENST00000682528.1:n.3617C>T
ENST00000682673.1:n.3484C>T
ENST00000682805.1:n.3537C>T
ENST00000682965.1:c.3396+896C>T	ENSP00000508229.1:n.3396+896C>T
ENST00000683093.1:n.3639C>T
ENST00000683136.1:c.3468C>T	ENSP00000507768.1:p.Ser1156=
ENST00000683153.1:n.3696C>T
ENST00000683365.1:n.3642C>T
ENST00000683377.1:n.3540C>T
ENST00000683456.1:c.*608C>T	ENSP00000508318.1:n.*608C>T
ENST00000683522.1:n.3540C>T
ENST00000683562.1:c.*1640C>T	ENSP00000508265.1:n.*1640C>T
ENST00000683693.1:n.3617C>T
ENST00000683725.1:c.3471C>T	ENSP00000507496.1:p.Ser1157=
ENST00000684010.1:n.3535C>T
ENST00000684157.1:n.3540C>T
ENST00000684253.1:n.3443C>T
ENST00000684288.1:c.*1643C>T	ENSP00000507143.1:n.*1643C>T
ENST00000684313.1:n.2972C>T
ENST00000684332.1:n.3613C>T
ENST00000684371.1:n.3646C>T
ENST00000684404.1:n.3583C>T
ENST00000684442.1:n.3540C>T
ENST00000684555.1:c.*1683C>T	ENSP00000507705.1:n.*1683C>T
ENST00000684571.1:c.3312C>T	ENSP00000506935.1:p.Ser1104=
ENST00000684593.1:c.*3176C>T	ENSP00000507005.1:n.*3176C>T
ENST00000684711.1:c.*1867C>T	ENSP00000506841.1:n.*1867C>T
ENST00000302539.9:c.3474C>T	ENSP00000303960.4:p.Ser1158=
ENST00000389817.8:c.3471C>T MANE Select	ENSP00000374467.4:p.Ser1157=
ENST00000642271.1:c.3468C>T	ENSP00000493749.1:p.Ser1156=
ENST00000642579.1:c.1555C>T
ENST00000642611.1:n.3425C>T
ENST00000642902.1:c.3253C>T
ENST00000643260.1:c.3471C>T	ENSP00000494450.1:p.Ser1157=
ENST00000643562.1:c.*1447C>T	ENSP00000496124.1:n.*1447C>T
ENST00000643925.1:c.1595C>T
ENST00000644447.1:c.1827C>T	ENSP00000496282.1:p.Ser609=
ENST00000644484.1:c.*1726C>T	ENSP00000493558.1:n.*1726C>T
ENST00000644675.1:c.*1643C>T	ENSP00000494567.1:n.*1643C>T
ENST00000644757.1:c.*1756C>T	ENSP00000495085.1:n.*1756C>T
ENST00000644772.1:c.3537C>T	ENSP00000494321.1:p.Ser1179=
ENST00000645004.1:n.610C>T
ENST00000645076.1:c.2670C>T
ENST00000645417.1:c.637C>T
ENST00000645744.1:c.*1735C>T	ENSP00000494564.1:n.*1735C>T
ENST00000645760.1:c.3746C>T
ENST00000645884.1:c.*608C>T	ENSP00000495516.1:n.*608C>T
ENST00000646003.1:c.*1427C>T	ENSP00000495259.1:n.*1427C>T
ENST00000646207.1:c.*1938C>T	ENSP00000495025.1:n.*1938C>T
ENST00000646276.1:c.*1744C>T	ENSP00000496070.1:n.*1744C>T
ENST00000646592.1:c.2777C>T
ENST00000646902.1:c.3468C>T	ENSP00000494101.1:p.Ser1156=
ENST00000646993.1:c.*1867C>T	ENSP00000493720.1:n.*1867C>T
ENST00000647013.1:c.3477C>T	ENSP00000496741.1:n.3477C>T
ENST00000647015.1:c.3222C>T	ENSP00000495389.1:p.Ser1074=
ENST00000647086.1:c.*3201C>T	ENSP00000493677.1:n.*3201C>T
ENST00000647158.1:c.*1612C>T	ENSP00000495744.1:n.*1612C>T
ENST00000302539.8:c.3474C>T	ENSP00000303960.4:p.Ser1158=
ENST00000389817.7:c.3471C>T	ENSP00000374467.3:p.Ser1157=
ENST00000524561.1:n.603C>T
ENST00000527905.5:c.*347C>T	ENSP00000431653.1:n.*347C>T
NM_000352.4:c.3471C>T	NP_000343.2:p.Ser1157=
NM_001287174.1:c.3474C>T	NP_001274103.1:p.Ser1158=
XM_011520331.1:c.3471C>T	XP_011518633.1:p.Ser1157=
XM_011520332.1:c.3474C>T	XP_011518634.1:p.Ser1158=
XM_011520333.1:c.1971C>T	XP_011518635.1:p.Ser657=
XR_930890.1:n.3537C>T
XR_930892.1:n.3437C>T
XR_930893.1:n.3434C>T
NM_001351295.1:c.3537C>T	NP_001338224.1:p.Ser1179=
NM_001351296.1:c.3471C>T	NP_001338225.1:p.Ser1157=
NM_001351297.1:c.3468C>T	NP_001338226.1:p.Ser1156=
NR_147094.1:n.3620C>T
XM_017018197.2:c.3540C>T	XP_016873686.1:p.Ser1180=
XM_017018199.1:c.3537C>T	XP_016873688.1:p.Ser1179=
XM_017018201.2:c.3540C>T	XP_016873690.1:p.Ser1180=
XM_017018202.1:c.2037C>T	XP_016873691.1:p.Ser679=
XM_017018204.1:c.1428C>T	XP_016873693.1:p.Ser476=
XM_024448668.1:c.1839C>T	XP_024304436.1:p.Ser613=
XR_001747945.2:n.3612C>T
XR_001747946.2:n.3543C>T
XR_002957189.1:n.3692C>T
NM_000352.6:c.3471C>T MANE Select	NP_000343.2:p.Ser1157=
NM_001287174.2:c.3474C>T	NP_001274103.1:p.Ser1158=
NM_001351295.2:c.3537C>T	NP_001338224.1:p.Ser1179=
NM_001351296.2:c.3471C>T	NP_001338225.1:p.Ser1157=
NM_001351297.2:c.3468C>T	NP_001338226.1:p.Ser1156=
NR_147094.2:n.3620C>T
NM_001287174.3:c.3474C>T	NP_001274103.1:p.Ser1158=