Canonical Allele Identifier: CA379786923

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417232T>C (hg19) ; chr11:g.17395685T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395685T>C , CM000673.2:g.17395685T>C	GRCh38
NC_000011.9:g.17417232T>C , CM000673.1:g.17417232T>C	GRCh37
NC_000011.8:g.17373808T>C	NCBI36
NG_008867.1:g.86218A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3833A>G
ENST00000528374.2:c.823A>G
ENST00000529967.6:n.2571A>G
ENST00000532220.2:n.3465A>G
ENST00000642611.2:n.5565A>G
ENST00000644057.2:n.808A>G
ENST00000645004.2:n.1731A>G
ENST00000682051.1:n.4394A>G
ENST00000682110.1:n.4447A>G
ENST00000682140.1:c.*18A>G	ENSP00000507829.1:n.*18A>G
ENST00000682185.1:n.5537A>G
ENST00000682204.1:c.*2370A>G	ENSP00000507094.1:n.*2370A>G
ENST00000682215.1:n.4814A>G
ENST00000682288.1:c.*2663A>G	ENSP00000507506.1:n.*2663A>G
ENST00000682442.1:n.4667A>G
ENST00000682528.1:n.4524A>G
ENST00000682673.1:n.4391A>G
ENST00000682805.1:n.4852A>G
ENST00000682965.1:c.*654A>G	ENSP00000508229.1:n.*654A>G
ENST00000683093.1:n.5531A>G
ENST00000683136.1:c.4115A>G	ENSP00000507768.1:p.Lys1372Arg
ENST00000683153.1:n.4489A>G
ENST00000683365.1:n.4549A>G
ENST00000683377.1:n.4447A>G
ENST00000683456.1:c.*1369A>G	ENSP00000508318.1:n.*1369A>G
ENST00000683522.1:n.4447A>G
ENST00000683562.1:c.*2401A>G	ENSP00000508265.1:n.*2401A>G
ENST00000683693.1:n.6012A>G
ENST00000683725.1:c.4232A>G	ENSP00000507496.1:p.Lys1411Arg
ENST00000684010.1:n.4442A>G
ENST00000684157.1:n.5432A>G
ENST00000684253.1:n.4350A>G
ENST00000684288.1:c.*2404A>G	ENSP00000507143.1:n.*2404A>G
ENST00000684313.1:n.3879A>G
ENST00000684332.1:n.4520A>G
ENST00000684371.1:n.4553A>G
ENST00000684404.1:n.5475A>G
ENST00000684442.1:n.4671A>G
ENST00000684555.1:c.*2444A>G	ENSP00000507705.1:n.*2444A>G
ENST00000684571.1:c.4073A>G	ENSP00000506935.1:p.Lys1358Arg
ENST00000684593.1:c.*3937A>G	ENSP00000507005.1:n.*3937A>G
ENST00000684711.1:c.*2628A>G	ENSP00000506841.1:n.*2628A>G
ENST00000302539.9:c.4235A>G	ENSP00000303960.4:p.Lys1412Arg
ENST00000389817.8:c.4232A>G MANE Select	ENSP00000374467.4:p.Lys1411Arg
ENST00000642271.1:c.4229A>G	ENSP00000493749.1:p.Lys1410Arg
ENST00000642579.1:c.2286A>G
ENST00000642611.1:n.5450A>G
ENST00000642902.1:c.4014A>G
ENST00000643260.1:c.4232A>G	ENSP00000494450.1:p.Lys1411Arg
ENST00000643562.1:c.*2354A>G	ENSP00000496124.1:n.*2354A>G
ENST00000643925.1:c.2872A>G
ENST00000644057.1:n.309A>G
ENST00000644484.1:c.*3618A>G	ENSP00000493558.1:n.*3618A>G
ENST00000644675.1:c.*2404A>G	ENSP00000494567.1:n.*2404A>G
ENST00000644757.1:c.*3202+579A>G	ENSP00000495085.1:n.*3202+579A>G
ENST00000644772.1:c.4298A>G	ENSP00000494321.1:p.Lys1433Arg
ENST00000645004.1:n.1925A>G
ENST00000645076.1:c.3431A>G
ENST00000645417.1:c.1420A>G
ENST00000645744.1:c.*3964-47A>G	ENSP00000494564.1:n.*3964-47A>G
ENST00000645760.1:c.4653A>G
ENST00000645884.1:c.*1515A>G	ENSP00000495516.1:n.*1515A>G
ENST00000646003.1:c.*2301-47A>G	ENSP00000495259.1:n.*2301-47A>G
ENST00000646207.1:c.*3069A>G	ENSP00000495025.1:n.*3069A>G
ENST00000646276.1:c.*3636A>G	ENSP00000496070.1:n.*3636A>G
ENST00000646592.1:c.3538A>G
ENST00000646902.1:c.4199A>G	ENSP00000494101.1:p.Lys1400Arg
ENST00000646993.1:c.*2774A>G	ENSP00000493720.1:n.*2774A>G
ENST00000647013.1:c.4238A>G	ENSP00000496741.1:n.4238A>G
ENST00000647015.1:c.3983A>G	ENSP00000495389.1:p.Lys1328Arg
ENST00000647086.1:c.*3818A>G	ENSP00000493677.1:n.*3818A>G
ENST00000647158.1:c.*2519A>G	ENSP00000495744.1:n.*2519A>G
ENST00000302539.8:c.4235A>G	ENSP00000303960.4:p.Lys1412Arg
ENST00000389817.7:c.4232A>G	ENSP00000374467.3:p.Lys1411Arg
ENST00000525022.1:n.231A>G
ENST00000526037.5:n.96A>G
ENST00000526168.5:c.67-47A>G
ENST00000531642.5:c.68A>G
NM_000352.4:c.4232A>G	NP_000343.2:p.Lys1411Arg
NM_001287174.1:c.4235A>G	NP_001274103.1:p.Lys1412Arg
XM_011520331.1:c.4232A>G	XP_011518633.1:p.Lys1411Arg
XM_011520332.1:c.4235A>G	XP_011518634.1:p.Lys1412Arg
XM_011520333.1:c.2732A>G	XP_011518635.1:p.Lys911Arg
XR_930890.1:n.4298A>G
NM_001351295.1:c.4298A>G	NP_001338224.1:p.Lys1433Arg
NM_001351296.1:c.4232A>G	NP_001338225.1:p.Lys1411Arg
NM_001351297.1:c.4229A>G	NP_001338226.1:p.Lys1410Arg
NR_147094.1:n.4527A>G
XM_017018197.2:c.4301A>G	XP_016873686.1:p.Lys1434Arg
XM_017018199.1:c.4298A>G	XP_016873688.1:p.Lys1433Arg
XM_017018201.2:c.4301A>G	XP_016873690.1:p.Lys1434Arg
XM_017018202.1:c.2798A>G	XP_016873691.1:p.Lys933Arg
XM_017018204.1:c.2189A>G	XP_016873693.1:p.Lys730Arg
XM_024448668.1:c.2600A>G	XP_024304436.1:p.Lys867Arg
XR_001747945.2:n.4373A>G
XR_001747946.2:n.4304A>G
XR_002957189.1:n.6087A>G
NM_000352.6:c.4232A>G MANE Select	NP_000343.2:p.Lys1411Arg
NM_001287174.2:c.4235A>G	NP_001274103.1:p.Lys1412Arg
NM_001351295.2:c.4298A>G	NP_001338224.1:p.Lys1433Arg
NM_001351296.2:c.4232A>G	NP_001338225.1:p.Lys1411Arg
NM_001351297.2:c.4229A>G	NP_001338226.1:p.Lys1410Arg
NR_147094.2:n.4527A>G
NM_001287174.3:c.4235A>G	NP_001274103.1:p.Lys1412Arg