Canonical Allele Identifier: CA379786387

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417170T>G (hg19) ; chr11:g.17395623T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395623T>G , CM000673.2:g.17395623T>G	GRCh38
NC_000011.9:g.17417170T>G , CM000673.1:g.17417170T>G	GRCh37
NC_000011.8:g.17373746T>G	NCBI36
NG_008867.1:g.86280A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3895A>C
ENST00000528374.2:c.885A>C
ENST00000529967.6:n.2633A>C
ENST00000532220.2:n.3527A>C
ENST00000642611.2:n.5627A>C
ENST00000644057.2:n.870A>C
ENST00000645004.2:n.1793A>C
ENST00000682051.1:n.4456A>C
ENST00000682110.1:n.4509A>C
ENST00000682140.1:c.*80A>C	ENSP00000507829.1:n.*80A>C
ENST00000682185.1:n.5599A>C
ENST00000682204.1:c.*2432A>C	ENSP00000507094.1:n.*2432A>C
ENST00000682215.1:n.4876A>C
ENST00000682288.1:c.*2725A>C	ENSP00000507506.1:n.*2725A>C
ENST00000682442.1:n.4729A>C
ENST00000682528.1:n.4586A>C
ENST00000682673.1:n.4453A>C
ENST00000682805.1:n.4914A>C
ENST00000682965.1:c.*716A>C	ENSP00000508229.1:n.*716A>C
ENST00000683093.1:n.5593A>C
ENST00000683136.1:c.4177A>C	ENSP00000507768.1:p.Ser1393Arg
ENST00000683153.1:n.4551A>C
ENST00000683365.1:n.4611A>C
ENST00000683377.1:n.4509A>C
ENST00000683456.1:c.*1431A>C	ENSP00000508318.1:n.*1431A>C
ENST00000683522.1:n.4509A>C
ENST00000683562.1:c.*2463A>C	ENSP00000508265.1:n.*2463A>C
ENST00000683693.1:n.6074A>C
ENST00000683725.1:c.4294A>C	ENSP00000507496.1:p.Ser1432Arg
ENST00000684010.1:n.4504A>C
ENST00000684157.1:n.5494A>C
ENST00000684253.1:n.4412A>C
ENST00000684288.1:c.*2466A>C	ENSP00000507143.1:n.*2466A>C
ENST00000684313.1:n.3941A>C
ENST00000684332.1:n.4582A>C
ENST00000684371.1:n.4615A>C
ENST00000684404.1:n.5537A>C
ENST00000684442.1:n.4733A>C
ENST00000684555.1:c.*2506A>C	ENSP00000507705.1:n.*2506A>C
ENST00000684571.1:c.4135A>C	ENSP00000506935.1:p.Ser1379Arg
ENST00000684593.1:c.*3999A>C	ENSP00000507005.1:n.*3999A>C
ENST00000684711.1:c.*2690A>C	ENSP00000506841.1:n.*2690A>C
ENST00000302539.9:c.4297A>C	ENSP00000303960.4:p.Ser1433Arg
ENST00000389817.8:c.4294A>C MANE Select	ENSP00000374467.4:p.Ser1432Arg
ENST00000642271.1:c.4291A>C	ENSP00000493749.1:p.Ser1431Arg
ENST00000642579.1:c.2348A>C
ENST00000642611.1:n.5512A>C
ENST00000642902.1:c.4076A>C
ENST00000643260.1:c.4294A>C	ENSP00000494450.1:p.Ser1432Arg
ENST00000643562.1:c.*2416A>C	ENSP00000496124.1:n.*2416A>C
ENST00000643925.1:c.2934A>C
ENST00000644057.1:n.371A>C
ENST00000644484.1:c.*3680A>C	ENSP00000493558.1:n.*3680A>C
ENST00000644675.1:c.*2466A>C	ENSP00000494567.1:n.*2466A>C
ENST00000644757.1:c.*3202+641A>C	ENSP00000495085.1:n.*3202+641A>C
ENST00000644772.1:c.4360A>C	ENSP00000494321.1:p.Ser1454Arg
ENST00000645004.1:n.1987A>C
ENST00000645076.1:c.3493A>C
ENST00000645417.1:c.1482A>C
ENST00000645744.1:c.*3979A>C	ENSP00000494564.1:n.*3979A>C
ENST00000645760.1:c.4715A>C
ENST00000645884.1:c.*1577A>C	ENSP00000495516.1:n.*1577A>C
ENST00000646003.1:c.*2316A>C	ENSP00000495259.1:n.*2316A>C
ENST00000646207.1:c.*3131A>C	ENSP00000495025.1:n.*3131A>C
ENST00000646276.1:c.*3698A>C	ENSP00000496070.1:n.*3698A>C
ENST00000646592.1:c.3600A>C
ENST00000646902.1:c.4261A>C	ENSP00000494101.1:p.Ser1421Arg
ENST00000646993.1:c.*2836A>C	ENSP00000493720.1:n.*2836A>C
ENST00000647013.1:c.4300A>C	ENSP00000496741.1:n.4300A>C
ENST00000647015.1:c.4045A>C	ENSP00000495389.1:p.Ser1349Arg
ENST00000647086.1:c.*3880A>C	ENSP00000493677.1:n.*3880A>C
ENST00000647158.1:c.*2581A>C	ENSP00000495744.1:n.*2581A>C
ENST00000302539.8:c.4297A>C	ENSP00000303960.4:p.Ser1433Arg
ENST00000389817.7:c.4294A>C	ENSP00000374467.3:p.Ser1432Arg
ENST00000525022.1:n.293A>C
ENST00000526037.5:n.158A>C
ENST00000526168.5:c.82A>C
ENST00000531642.5:c.130A>C
NM_000352.4:c.4294A>C	NP_000343.2:p.Ser1432Arg
NM_001287174.1:c.4297A>C	NP_001274103.1:p.Ser1433Arg
XM_011520331.1:c.4294A>C	XP_011518633.1:p.Ser1432Arg
XM_011520332.1:c.4297A>C	XP_011518634.1:p.Ser1433Arg
XM_011520333.1:c.2794A>C	XP_011518635.1:p.Ser932Arg
XR_930890.1:n.4360A>C
NM_001351295.1:c.4360A>C	NP_001338224.1:p.Ser1454Arg
NM_001351296.1:c.4294A>C	NP_001338225.1:p.Ser1432Arg
NM_001351297.1:c.4291A>C	NP_001338226.1:p.Ser1431Arg
NR_147094.1:n.4589A>C
XM_017018197.2:c.4363A>C	XP_016873686.1:p.Ser1455Arg
XM_017018199.1:c.4360A>C	XP_016873688.1:p.Ser1454Arg
XM_017018201.2:c.4363A>C	XP_016873690.1:p.Ser1455Arg
XM_017018202.1:c.2860A>C	XP_016873691.1:p.Ser954Arg
XM_017018204.1:c.2251A>C	XP_016873693.1:p.Ser751Arg
XM_024448668.1:c.2662A>C	XP_024304436.1:p.Ser888Arg
XR_001747945.2:n.4435A>C
XR_001747946.2:n.4366A>C
XR_002957189.1:n.6149A>C
NM_000352.6:c.4294A>C MANE Select	NP_000343.2:p.Ser1432Arg
NM_001287174.2:c.4297A>C	NP_001274103.1:p.Ser1433Arg
NM_001351295.2:c.4360A>C	NP_001338224.1:p.Ser1454Arg
NM_001351296.2:c.4294A>C	NP_001338225.1:p.Ser1432Arg
NM_001351297.2:c.4291A>C	NP_001338226.1:p.Ser1431Arg
NR_147094.2:n.4589A>C
NM_001287174.3:c.4297A>C	NP_001274103.1:p.Ser1433Arg