Canonical Allele Identifier: CA379781523

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393125G>A , CM000673.2:g.17393125G>A	GRCh38
NC_000011.9:g.17414672G>A , CM000673.1:g.17414672G>A	GRCh37
NC_000011.8:g.17371248G>A	NCBI36
NG_008867.1:g.88778C>T
NG_012446.1:g.535C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.4612C>T MANE Select	NP_000343.2:p.Arg1538Ter
ENST00000389817.8:c.4612C>T MANE Select	ENSP00000374467.4:p.Arg1538Ter
NM_000352.4:c.4612C>T	NP_000343.2:p.Arg1538Ter
NM_001287174.1:c.4615C>T	NP_001274103.1:p.Arg1539Ter
NM_001287174.2:c.4615C>T	NP_001274103.1:p.Arg1539Ter
NM_001287174.3:c.4615C>T	NP_001274103.1:p.Arg1539Ter
NM_001351295.1:c.4678C>T	NP_001338224.1:p.Arg1560Ter
NM_001351295.2:c.4678C>T	NP_001338224.1:p.Arg1560Ter
NM_001351296.1:c.4612C>T	NP_001338225.1:p.Arg1538Ter
NM_001351296.2:c.4612C>T	NP_001338225.1:p.Arg1538Ter
NM_001351297.1:c.4609C>T	NP_001338226.1:p.Arg1537Ter
NM_001351297.2:c.4609C>T	NP_001338226.1:p.Arg1537Ter
NR_147094.1:n.4907C>T
NR_147094.2:n.4907C>T
ENST00000302539.8:c.4615C>T	ENSP00000303960.4:p.Arg1539Ter
ENST00000302539.9:c.4615C>T	ENSP00000303960.4:p.Arg1539Ter
ENST00000389817.7:c.4612C>T	ENSP00000374467.3:p.Arg1538Ter
ENST00000524561.2:n.4213C>T
ENST00000525022.1:n.591C>T
ENST00000526037.5:n.372C>T
ENST00000526037.6:n.547C>T
ENST00000526168.5:c.400C>T
ENST00000528374.2:c.1203C>T
ENST00000529967.6:n.2951C>T
ENST00000531642.5:c.643C>T
ENST00000532220.2:n.3845C>T
ENST00000642271.1:c.4609C>T	ENSP00000493749.1:p.Arg1537Ter
ENST00000642579.1:c.2666C>T
ENST00000642611.1:n.5830C>T
ENST00000642611.2:n.5945C>T
ENST00000642902.1:c.4394C>T
ENST00000643260.1:c.4612C>T	ENSP00000494450.1:p.Arg1538Ter
ENST00000643562.1:c.*2734C>T	ENSP00000496124.1:n.*2734C>T
ENST00000643925.1:c.3189C>T
ENST00000644057.1:n.771C>T
ENST00000644057.2:n.1188C>T
ENST00000644484.1:c.*3998C>T	ENSP00000493558.1:n.*3998C>T
ENST00000644675.1:c.*2784C>T	ENSP00000494567.1:n.*2784C>T
ENST00000644757.1:c.*3203-145C>T	ENSP00000495085.1:n.*3203-145C>T
ENST00000644772.1:c.4678C>T	ENSP00000494321.1:p.Arg1560Ter
ENST00000645004.1:n.2305C>T
ENST00000645004.2:n.2111C>T
ENST00000645076.1:c.3707C>T
ENST00000645417.1:c.1800C>T
ENST00000645744.1:c.*4297C>T	ENSP00000494564.1:n.*4297C>T
ENST00000645760.1:c.5033C>T
ENST00000645884.1:c.*1895C>T	ENSP00000495516.1:n.*1895C>T
ENST00000646003.1:c.*2634C>T	ENSP00000495259.1:n.*2634C>T
ENST00000646207.1:c.*3449C>T	ENSP00000495025.1:n.*3449C>T
ENST00000646276.1:c.*4016C>T	ENSP00000496070.1:n.*4016C>T
ENST00000646592.1:c.3918C>T
ENST00000646902.1:c.4579C>T	ENSP00000494101.1:p.Arg1527Ter
ENST00000646993.1:c.*3050C>T	ENSP00000493720.1:n.*3050C>T
ENST00000647015.1:c.4363C>T	ENSP00000495389.1:p.Arg1455Ter
ENST00000647086.1:c.*4198C>T	ENSP00000493677.1:n.*4198C>T
ENST00000647158.1:c.*2899C>T	ENSP00000495744.1:n.*2899C>T
ENST00000682051.1:n.4774C>T
ENST00000682110.1:n.4827C>T
ENST00000682140.1:c.*398C>T	ENSP00000507829.1:n.*398C>T
ENST00000682185.1:n.5917C>T
ENST00000682204.1:c.*2750C>T	ENSP00000507094.1:n.*2750C>T
ENST00000682215.1:n.5194C>T
ENST00000682288.1:c.*3043C>T	ENSP00000507506.1:n.*3043C>T
ENST00000682442.1:n.5047C>T
ENST00000682528.1:n.4904C>T
ENST00000682673.1:n.4771C>T
ENST00000682805.1:n.5232C>T
ENST00000682965.1:c.*1034C>T	ENSP00000508229.1:n.*1034C>T
ENST00000683093.1:n.5807C>T
ENST00000683136.1:c.4495C>T	ENSP00000507768.1:p.Arg1499Ter
ENST00000683153.1:n.4869C>T
ENST00000683365.1:n.4929C>T
ENST00000683377.1:n.4723C>T
ENST00000683456.1:c.*1749C>T	ENSP00000508318.1:n.*1749C>T
ENST00000683522.1:n.4909C>T
ENST00000683562.1:c.*2677C>T	ENSP00000508265.1:n.*2677C>T
ENST00000683693.1:n.6288C>T
ENST00000683725.1:c.*77C>T	ENSP00000507496.1:n.*77C>T
ENST00000684010.1:n.4822C>T
ENST00000684014.1:n.799C>T
ENST00000684157.1:n.5812C>T
ENST00000684253.1:n.4730C>T
ENST00000684288.1:c.*2784C>T	ENSP00000507143.1:n.*2784C>T
ENST00000684313.1:n.4259C>T
ENST00000684332.1:n.4900C>T
ENST00000684371.1:n.4933C>T
ENST00000684404.1:n.5855C>T
ENST00000684442.1:n.5051C>T
ENST00000684555.1:c.*2824C>T	ENSP00000507705.1:n.*2824C>T
ENST00000684571.1:c.4453C>T	ENSP00000506935.1:p.Arg1485Ter
ENST00000684593.1:c.*4317C>T	ENSP00000507005.1:n.*4317C>T
ENST00000684711.1:c.*3008C>T	ENSP00000506841.1:n.*3008C>T
XM_011520331.1:c.4612C>T	XP_011518633.1:p.Arg1538Ter
XM_011520333.1:c.3112C>T	XP_011518635.1:p.Arg1038Ter
XM_017018197.2:c.4681C>T	XP_016873686.1:p.Arg1561Ter
XM_017018199.1:c.4678C>T	XP_016873688.1:p.Arg1560Ter
XM_017018202.1:c.3178C>T	XP_016873691.1:p.Arg1060Ter
XM_017018204.1:c.2569C>T	XP_016873693.1:p.Arg857Ter
XM_024448668.1:c.2980C>T	XP_024304436.1:p.Arg994Ter
XR_001747945.2:n.4649C>T
XR_001747946.2:n.4580C>T
XR_002957189.1:n.6363C>T
XR_930890.1:n.4574C>T