Canonical Allele Identifier: CA379786399

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417172A>C (hg19) ; chr11:g.17395625A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395625A>C , CM000673.2:g.17395625A>C	GRCh38
NC_000011.9:g.17417172A>C , CM000673.1:g.17417172A>C	GRCh37
NC_000011.8:g.17373748A>C	NCBI36
NG_008867.1:g.86278T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3893T>G
ENST00000528374.2:c.883T>G
ENST00000529967.6:n.2631T>G
ENST00000532220.2:n.3525T>G
ENST00000642611.2:n.5625T>G
ENST00000644057.2:n.868T>G
ENST00000645004.2:n.1791T>G
ENST00000682051.1:n.4454T>G
ENST00000682110.1:n.4507T>G
ENST00000682140.1:c.*78T>G	ENSP00000507829.1:n.*78T>G
ENST00000682185.1:n.5597T>G
ENST00000682204.1:c.*2430T>G	ENSP00000507094.1:n.*2430T>G
ENST00000682215.1:n.4874T>G
ENST00000682288.1:c.*2723T>G	ENSP00000507506.1:n.*2723T>G
ENST00000682442.1:n.4727T>G
ENST00000682528.1:n.4584T>G
ENST00000682673.1:n.4451T>G
ENST00000682805.1:n.4912T>G
ENST00000682965.1:c.*714T>G	ENSP00000508229.1:n.*714T>G
ENST00000683093.1:n.5591T>G
ENST00000683136.1:c.4175T>G	ENSP00000507768.1:p.Phe1392Cys
ENST00000683153.1:n.4549T>G
ENST00000683365.1:n.4609T>G
ENST00000683377.1:n.4507T>G
ENST00000683456.1:c.*1429T>G	ENSP00000508318.1:n.*1429T>G
ENST00000683522.1:n.4507T>G
ENST00000683562.1:c.*2461T>G	ENSP00000508265.1:n.*2461T>G
ENST00000683693.1:n.6072T>G
ENST00000683725.1:c.4292T>G	ENSP00000507496.1:p.Phe1431Cys
ENST00000684010.1:n.4502T>G
ENST00000684157.1:n.5492T>G
ENST00000684253.1:n.4410T>G
ENST00000684288.1:c.*2464T>G	ENSP00000507143.1:n.*2464T>G
ENST00000684313.1:n.3939T>G
ENST00000684332.1:n.4580T>G
ENST00000684371.1:n.4613T>G
ENST00000684404.1:n.5535T>G
ENST00000684442.1:n.4731T>G
ENST00000684555.1:c.*2504T>G	ENSP00000507705.1:n.*2504T>G
ENST00000684571.1:c.4133T>G	ENSP00000506935.1:p.Phe1378Cys
ENST00000684593.1:c.*3997T>G	ENSP00000507005.1:n.*3997T>G
ENST00000684711.1:c.*2688T>G	ENSP00000506841.1:n.*2688T>G
ENST00000302539.9:c.4295T>G	ENSP00000303960.4:p.Phe1432Cys
ENST00000389817.8:c.4292T>G MANE Select	ENSP00000374467.4:p.Phe1431Cys
ENST00000642271.1:c.4289T>G	ENSP00000493749.1:p.Phe1430Cys
ENST00000642579.1:c.2346T>G
ENST00000642611.1:n.5510T>G
ENST00000642902.1:c.4074T>G
ENST00000643260.1:c.4292T>G	ENSP00000494450.1:p.Phe1431Cys
ENST00000643562.1:c.*2414T>G	ENSP00000496124.1:n.*2414T>G
ENST00000643925.1:c.2932T>G
ENST00000644057.1:n.369T>G
ENST00000644484.1:c.*3678T>G	ENSP00000493558.1:n.*3678T>G
ENST00000644675.1:c.*2464T>G	ENSP00000494567.1:n.*2464T>G
ENST00000644757.1:c.*3202+639T>G	ENSP00000495085.1:n.*3202+639T>G
ENST00000644772.1:c.4358T>G	ENSP00000494321.1:p.Phe1453Cys
ENST00000645004.1:n.1985T>G
ENST00000645076.1:c.3491T>G
ENST00000645417.1:c.1480T>G
ENST00000645744.1:c.*3977T>G	ENSP00000494564.1:n.*3977T>G
ENST00000645760.1:c.4713T>G
ENST00000645884.1:c.*1575T>G	ENSP00000495516.1:n.*1575T>G
ENST00000646003.1:c.*2314T>G	ENSP00000495259.1:n.*2314T>G
ENST00000646207.1:c.*3129T>G	ENSP00000495025.1:n.*3129T>G
ENST00000646276.1:c.*3696T>G	ENSP00000496070.1:n.*3696T>G
ENST00000646592.1:c.3598T>G
ENST00000646902.1:c.4259T>G	ENSP00000494101.1:p.Phe1420Cys
ENST00000646993.1:c.*2834T>G	ENSP00000493720.1:n.*2834T>G
ENST00000647013.1:c.4298T>G	ENSP00000496741.1:n.4298T>G
ENST00000647015.1:c.4043T>G	ENSP00000495389.1:p.Phe1348Cys
ENST00000647086.1:c.*3878T>G	ENSP00000493677.1:n.*3878T>G
ENST00000647158.1:c.*2579T>G	ENSP00000495744.1:n.*2579T>G
ENST00000302539.8:c.4295T>G	ENSP00000303960.4:p.Phe1432Cys
ENST00000389817.7:c.4292T>G	ENSP00000374467.3:p.Phe1431Cys
ENST00000525022.1:n.291T>G
ENST00000526037.5:n.156T>G
ENST00000526168.5:c.80T>G
ENST00000531642.5:c.128T>G
NM_000352.4:c.4292T>G	NP_000343.2:p.Phe1431Cys
NM_001287174.1:c.4295T>G	NP_001274103.1:p.Phe1432Cys
XM_011520331.1:c.4292T>G	XP_011518633.1:p.Phe1431Cys
XM_011520332.1:c.4295T>G	XP_011518634.1:p.Phe1432Cys
XM_011520333.1:c.2792T>G	XP_011518635.1:p.Phe931Cys
XR_930890.1:n.4358T>G
NM_001351295.1:c.4358T>G	NP_001338224.1:p.Phe1453Cys
NM_001351296.1:c.4292T>G	NP_001338225.1:p.Phe1431Cys
NM_001351297.1:c.4289T>G	NP_001338226.1:p.Phe1430Cys
NR_147094.1:n.4587T>G
XM_017018197.2:c.4361T>G	XP_016873686.1:p.Phe1454Cys
XM_017018199.1:c.4358T>G	XP_016873688.1:p.Phe1453Cys
XM_017018201.2:c.4361T>G	XP_016873690.1:p.Phe1454Cys
XM_017018202.1:c.2858T>G	XP_016873691.1:p.Phe953Cys
XM_017018204.1:c.2249T>G	XP_016873693.1:p.Phe750Cys
XM_024448668.1:c.2660T>G	XP_024304436.1:p.Phe887Cys
XR_001747945.2:n.4433T>G
XR_001747946.2:n.4364T>G
XR_002957189.1:n.6147T>G
NM_000352.6:c.4292T>G MANE Select	NP_000343.2:p.Phe1431Cys
NM_001287174.2:c.4295T>G	NP_001274103.1:p.Phe1432Cys
NM_001351295.2:c.4358T>G	NP_001338224.1:p.Phe1453Cys
NM_001351296.2:c.4292T>G	NP_001338225.1:p.Phe1431Cys
NM_001351297.2:c.4289T>G	NP_001338226.1:p.Phe1430Cys
NR_147094.2:n.4587T>G
NM_001287174.3:c.4295T>G	NP_001274103.1:p.Phe1432Cys