Canonical Allele Identifier: CA1955122299

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393716C= , CM000673.2:g.17393716C=	GRCh38
NC_000011.9:g.17415263C= , CM000673.1:g.17415263C=	GRCh37
NC_000011.8:g.17371839C=	NCBI36
NG_008867.1:g.88187G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4190G=
ENST00000526037.6:n.524G=
ENST00000528374.2:c.1180G=
ENST00000529967.6:n.2928G=
ENST00000532220.2:n.3822G=
ENST00000642611.2:n.5922G=
ENST00000644057.2:n.1165G=
ENST00000645004.2:n.2088G=
ENST00000682051.1:n.4751G=
ENST00000682110.1:n.4804G=
ENST00000682140.1:c.*375G=	ENSP00000507829.1:n.*375G=
ENST00000682185.1:n.5894G=
ENST00000682204.1:c.*2727G=	ENSP00000507094.1:n.*2727G=
ENST00000682215.1:n.5171G=
ENST00000682288.1:c.*3020G=	ENSP00000507506.1:n.*3020G=
ENST00000682442.1:n.5024G=
ENST00000682528.1:n.4881G=
ENST00000682673.1:n.4748G=
ENST00000682805.1:n.5209G=
ENST00000682965.1:c.*1011G=	ENSP00000508229.1:n.*1011G=
ENST00000683093.1:n.5784G=
ENST00000683136.1:c.4472G=	ENSP00000507768.1:p.Arg1491=
ENST00000683153.1:n.4846G=
ENST00000683365.1:n.4906G=
ENST00000683377.1:n.4700G=
ENST00000683456.1:c.*1726G=	ENSP00000508318.1:n.*1726G=
ENST00000683522.1:n.4886G=
ENST00000683562.1:c.*2654G=	ENSP00000508265.1:n.*2654G=
ENST00000683693.1:n.6265G=
ENST00000683725.1:c.*54G=	ENSP00000507496.1:n.*54G=
ENST00000684010.1:n.4799G=
ENST00000684014.1:n.776G=
ENST00000684157.1:n.5789G=
ENST00000684253.1:n.4707G=
ENST00000684288.1:c.*2761G=	ENSP00000507143.1:n.*2761G=
ENST00000684313.1:n.4236G=
ENST00000684332.1:n.4877G=
ENST00000684371.1:n.4910G=
ENST00000684404.1:n.5832G=
ENST00000684442.1:n.5028G=
ENST00000684555.1:c.*2801G=	ENSP00000507705.1:n.*2801G=
ENST00000684571.1:c.4430G=	ENSP00000506935.1:p.Arg1477=
ENST00000684593.1:c.*4294G=	ENSP00000507005.1:n.*4294G=
ENST00000684711.1:c.*2985G=	ENSP00000506841.1:n.*2985G=
ENST00000302539.9:c.4592G=	ENSP00000303960.4:p.Arg1531=
ENST00000389817.8:c.4589G= MANE Select	ENSP00000374467.4:p.Arg1530=
ENST00000642271.1:c.4586G=	ENSP00000493749.1:p.Arg1529=
ENST00000642579.1:c.2643G=
ENST00000642611.1:n.5807G=
ENST00000642902.1:c.4371G=
ENST00000643260.1:c.4589G=	ENSP00000494450.1:p.Arg1530=
ENST00000643562.1:c.*2711G=	ENSP00000496124.1:n.*2711G=
ENST00000643925.1:c.3185+550G=
ENST00000644057.1:n.748G=
ENST00000644484.1:c.*3975G=	ENSP00000493558.1:n.*3975G=
ENST00000644675.1:c.*2761G=	ENSP00000494567.1:n.*2761G=
ENST00000644757.1:c.*3203-736G=	ENSP00000495085.1:n.*3203-736G=
ENST00000644772.1:c.4655G=	ENSP00000494321.1:p.Arg1552=
ENST00000645004.1:n.2282G=
ENST00000645076.1:c.3684G=
ENST00000645417.1:c.1777G=
ENST00000645744.1:c.*4274G=	ENSP00000494564.1:n.*4274G=
ENST00000645760.1:c.5010G=
ENST00000645884.1:c.*1872G=	ENSP00000495516.1:n.*1872G=
ENST00000646003.1:c.*2611G=	ENSP00000495259.1:n.*2611G=
ENST00000646207.1:c.*3426G=	ENSP00000495025.1:n.*3426G=
ENST00000646276.1:c.*3993G=	ENSP00000496070.1:n.*3993G=
ENST00000646592.1:c.3895G=
ENST00000646902.1:c.4556G=	ENSP00000494101.1:p.Arg1519=
ENST00000646993.1:c.*3027G=	ENSP00000493720.1:n.*3027G=
ENST00000647015.1:c.4340G=	ENSP00000495389.1:p.Arg1447=
ENST00000647086.1:c.*4175G=	ENSP00000493677.1:n.*4175G=
ENST00000647158.1:c.*2876G=	ENSP00000495744.1:n.*2876G=
ENST00000302539.8:c.4592G=	ENSP00000303960.4:p.Arg1531=
ENST00000389817.7:c.4589G=	ENSP00000374467.3:p.Arg1530=
ENST00000525022.1:n.484G=
ENST00000526037.5:n.349G=
ENST00000526168.5:c.377G=
ENST00000531642.5:c.620G=
NM_000352.4:c.4589G=	NP_000343.2:p.Arg1530=
NM_001287174.1:c.4592G=	NP_001274103.1:p.Arg1531=
XM_011520331.1:c.4589G=	XP_011518633.1:p.Arg1530=
XM_011520333.1:c.3089G=	XP_011518635.1:p.Arg1030=
XR_930890.1:n.4551G=
NM_001351295.1:c.4655G=	NP_001338224.1:p.Arg1552=
NM_001351296.1:c.4589G=	NP_001338225.1:p.Arg1530=
NM_001351297.1:c.4586G=	NP_001338226.1:p.Arg1529=
NR_147094.1:n.4884G=
XM_017018197.2:c.4658G=	XP_016873686.1:p.Arg1553=
XM_017018199.1:c.4655G=	XP_016873688.1:p.Arg1552=
XM_017018202.1:c.3155G=	XP_016873691.1:p.Arg1052=
XM_017018204.1:c.2546G=	XP_016873693.1:p.Arg849=
XM_024448668.1:c.2957G=	XP_024304436.1:p.Arg986=
XR_001747945.2:n.4626G=
XR_001747946.2:n.4557G=
XR_002957189.1:n.6340G=
NM_000352.6:c.4589G= MANE Select	NP_000343.2:p.Arg1530=
NM_001287174.2:c.4592G=	NP_001274103.1:p.Arg1531=
NM_001351295.2:c.4655G=	NP_001338224.1:p.Arg1552=
NM_001351296.2:c.4589G=	NP_001338225.1:p.Arg1530=
NM_001351297.2:c.4586G=	NP_001338226.1:p.Arg1529=
NR_147094.2:n.4884G=
NM_001287174.3:c.4592G=	NP_001274103.1:p.Arg1531=