Canonical Allele Identifier: CA379787230

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417250T>A (hg19) ; chr11:g.17395703T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395703T>A , CM000673.2:g.17395703T>A	GRCh38
NC_000011.9:g.17417250T>A , CM000673.1:g.17417250T>A	GRCh37
NC_000011.8:g.17373826T>A	NCBI36
NG_008867.1:g.86200A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3815A>T
ENST00000528374.2:c.805A>T
ENST00000529967.6:n.2553A>T
ENST00000532220.2:n.3447A>T
ENST00000642611.2:n.5547A>T
ENST00000644057.2:n.790A>T
ENST00000645004.2:n.1713A>T
ENST00000682051.1:n.4376A>T
ENST00000682110.1:n.4429A>T
ENST00000682140.1:c.4080A>T	ENSP00000507829.1:p.Ter1360Cys
ENST00000682185.1:n.5519A>T
ENST00000682204.1:c.*2352A>T	ENSP00000507094.1:n.*2352A>T
ENST00000682215.1:n.4796A>T
ENST00000682288.1:c.*2645A>T	ENSP00000507506.1:n.*2645A>T
ENST00000682442.1:n.4649A>T
ENST00000682528.1:n.4506A>T
ENST00000682673.1:n.4373A>T
ENST00000682805.1:n.4834A>T
ENST00000682965.1:c.*636A>T	ENSP00000508229.1:n.*636A>T
ENST00000683093.1:n.5513A>T
ENST00000683136.1:c.4097A>T	ENSP00000507768.1:p.Asp1366Val
ENST00000683153.1:n.4471A>T
ENST00000683365.1:n.4531A>T
ENST00000683377.1:n.4429A>T
ENST00000683456.1:c.*1351A>T	ENSP00000508318.1:n.*1351A>T
ENST00000683522.1:n.4429A>T
ENST00000683562.1:c.*2383A>T	ENSP00000508265.1:n.*2383A>T
ENST00000683693.1:n.5994A>T
ENST00000683725.1:c.4214A>T	ENSP00000507496.1:p.Asp1405Val
ENST00000684010.1:n.4424A>T
ENST00000684157.1:n.5414A>T
ENST00000684253.1:n.4332A>T
ENST00000684288.1:c.*2386A>T	ENSP00000507143.1:n.*2386A>T
ENST00000684313.1:n.3861A>T
ENST00000684332.1:n.4502A>T
ENST00000684371.1:n.4535A>T
ENST00000684404.1:n.5457A>T
ENST00000684442.1:n.4653A>T
ENST00000684555.1:c.*2426A>T	ENSP00000507705.1:n.*2426A>T
ENST00000684571.1:c.4055A>T	ENSP00000506935.1:p.Asp1352Val
ENST00000684593.1:c.*3919A>T	ENSP00000507005.1:n.*3919A>T
ENST00000684711.1:c.*2610A>T	ENSP00000506841.1:n.*2610A>T
ENST00000302539.9:c.4217A>T	ENSP00000303960.4:p.Asp1406Val
ENST00000389817.8:c.4214A>T MANE Select	ENSP00000374467.4:p.Asp1405Val
ENST00000642271.1:c.4211A>T	ENSP00000493749.1:p.Asp1404Val
ENST00000642579.1:c.2268A>T
ENST00000642611.1:n.5432A>T
ENST00000642902.1:c.3996A>T
ENST00000643260.1:c.4214A>T	ENSP00000494450.1:p.Asp1405Val
ENST00000643562.1:c.*2336A>T	ENSP00000496124.1:n.*2336A>T
ENST00000643925.1:c.2854A>T
ENST00000644057.1:n.291A>T
ENST00000644484.1:c.*3600A>T	ENSP00000493558.1:n.*3600A>T
ENST00000644675.1:c.*2386A>T	ENSP00000494567.1:n.*2386A>T
ENST00000644757.1:c.*3202+561A>T	ENSP00000495085.1:n.*3202+561A>T
ENST00000644772.1:c.4280A>T	ENSP00000494321.1:p.Asp1427Val
ENST00000645004.1:n.1907A>T
ENST00000645076.1:c.3413A>T
ENST00000645417.1:c.1402A>T
ENST00000645744.1:c.*3964-65A>T	ENSP00000494564.1:n.*3964-65A>T
ENST00000645760.1:c.4635A>T
ENST00000645884.1:c.*1497A>T	ENSP00000495516.1:n.*1497A>T
ENST00000646003.1:c.*2301-65A>T	ENSP00000495259.1:n.*2301-65A>T
ENST00000646207.1:c.*3051A>T	ENSP00000495025.1:n.*3051A>T
ENST00000646276.1:c.*3618A>T	ENSP00000496070.1:n.*3618A>T
ENST00000646592.1:c.3520A>T
ENST00000646902.1:c.4181A>T	ENSP00000494101.1:p.Asp1394Val
ENST00000646993.1:c.*2756A>T	ENSP00000493720.1:n.*2756A>T
ENST00000647013.1:c.4220A>T	ENSP00000496741.1:n.4220A>T
ENST00000647015.1:c.3965A>T	ENSP00000495389.1:p.Asp1322Val
ENST00000647086.1:c.*3800A>T	ENSP00000493677.1:n.*3800A>T
ENST00000647158.1:c.*2501A>T	ENSP00000495744.1:n.*2501A>T
ENST00000302539.8:c.4217A>T	ENSP00000303960.4:p.Asp1406Val
ENST00000389817.7:c.4214A>T	ENSP00000374467.3:p.Asp1405Val
ENST00000525022.1:n.213A>T
ENST00000526037.5:n.78A>T
ENST00000526168.5:c.67-65A>T
ENST00000531642.5:c.50A>T
NM_000352.4:c.4214A>T	NP_000343.2:p.Asp1405Val
NM_001287174.1:c.4217A>T	NP_001274103.1:p.Asp1406Val
XM_011520331.1:c.4214A>T	XP_011518633.1:p.Asp1405Val
XM_011520332.1:c.4217A>T	XP_011518634.1:p.Asp1406Val
XM_011520333.1:c.2714A>T	XP_011518635.1:p.Asp905Val
XR_930890.1:n.4280A>T
NM_001351295.1:c.4280A>T	NP_001338224.1:p.Asp1427Val
NM_001351296.1:c.4214A>T	NP_001338225.1:p.Asp1405Val
NM_001351297.1:c.4211A>T	NP_001338226.1:p.Asp1404Val
NR_147094.1:n.4509A>T
XM_017018197.2:c.4283A>T	XP_016873686.1:p.Asp1428Val
XM_017018199.1:c.4280A>T	XP_016873688.1:p.Asp1427Val
XM_017018201.2:c.4283A>T	XP_016873690.1:p.Asp1428Val
XM_017018202.1:c.2780A>T	XP_016873691.1:p.Asp927Val
XM_017018204.1:c.2171A>T	XP_016873693.1:p.Asp724Val
XM_024448668.1:c.2582A>T	XP_024304436.1:p.Asp861Val
XR_001747945.2:n.4355A>T
XR_001747946.2:n.4286A>T
XR_002957189.1:n.6069A>T
NM_000352.6:c.4214A>T MANE Select	NP_000343.2:p.Asp1405Val
NM_001287174.2:c.4217A>T	NP_001274103.1:p.Asp1406Val
NM_001351295.2:c.4280A>T	NP_001338224.1:p.Asp1427Val
NM_001351296.2:c.4214A>T	NP_001338225.1:p.Asp1405Val
NM_001351297.2:c.4211A>T	NP_001338226.1:p.Asp1404Val
NR_147094.2:n.4509A>T
NM_001287174.3:c.4217A>T	NP_001274103.1:p.Asp1406Val