Canonical Allele Identifier: CA379790681

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418530A>T (hg19) ; chr11:g.17396983A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396983A>T , CM000673.2:g.17396983A>T	GRCh38
NC_000011.9:g.17418530A>T , CM000673.1:g.17418530A>T	GRCh37
NC_000011.8:g.17375106A>T	NCBI36
NG_008867.1:g.84920T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3653T>A
ENST00000528374.2:c.643T>A
ENST00000529967.6:n.2391T>A
ENST00000532220.2:n.2300T>A
ENST00000642611.2:n.4267T>A
ENST00000644057.2:n.495T>A
ENST00000645004.2:n.1551T>A
ENST00000682051.1:n.4214T>A
ENST00000682110.1:n.4267T>A
ENST00000682140.1:c.3985+210T>A	ENSP00000507829.1:n.3985+210T>A
ENST00000682185.1:n.5357T>A
ENST00000682204.1:c.*2190T>A	ENSP00000507094.1:n.*2190T>A
ENST00000682215.1:n.4634T>A
ENST00000682288.1:c.*2483T>A	ENSP00000507506.1:n.*2483T>A
ENST00000682442.1:n.4487T>A
ENST00000682528.1:n.4344T>A
ENST00000682673.1:n.4211T>A
ENST00000682805.1:n.4634T>A
ENST00000682965.1:c.*474T>A	ENSP00000508229.1:n.*474T>A
ENST00000683093.1:n.4366T>A
ENST00000683136.1:c.3935T>A	ENSP00000507768.1:p.Val1312Glu
ENST00000683153.1:n.4309T>A
ENST00000683365.1:n.4369T>A
ENST00000683377.1:n.4267T>A
ENST00000683456.1:c.*1189T>A	ENSP00000508318.1:n.*1189T>A
ENST00000683522.1:n.4267T>A
ENST00000683562.1:c.*2221T>A	ENSP00000508265.1:n.*2221T>A
ENST00000683693.1:n.4714T>A
ENST00000683725.1:c.4052T>A	ENSP00000507496.1:p.Val1351Glu
ENST00000684010.1:n.4262T>A
ENST00000684157.1:n.4267T>A
ENST00000684253.1:n.4170T>A
ENST00000684288.1:c.*2224T>A	ENSP00000507143.1:n.*2224T>A
ENST00000684313.1:n.3699T>A
ENST00000684332.1:n.4340T>A
ENST00000684371.1:n.4373T>A
ENST00000684404.1:n.4310T>A
ENST00000684442.1:n.4491T>A
ENST00000684555.1:c.*2264T>A	ENSP00000507705.1:n.*2264T>A
ENST00000684571.1:c.3893T>A	ENSP00000506935.1:p.Val1298Glu
ENST00000684593.1:c.*3757T>A	ENSP00000507005.1:n.*3757T>A
ENST00000684711.1:c.*2448T>A	ENSP00000506841.1:n.*2448T>A
ENST00000302539.9:c.4055T>A	ENSP00000303960.4:p.Val1352Glu
ENST00000389817.8:c.4052T>A MANE Select	ENSP00000374467.4:p.Val1351Glu
ENST00000642271.1:c.4049T>A	ENSP00000493749.1:p.Val1350Glu
ENST00000642579.1:c.2106T>A
ENST00000642611.1:n.4152T>A
ENST00000642902.1:c.3834T>A
ENST00000643260.1:c.4052T>A	ENSP00000494450.1:p.Val1351Glu
ENST00000643562.1:c.*2174T>A	ENSP00000496124.1:n.*2174T>A
ENST00000643925.1:c.2692T>A
ENST00000644057.1:n.129T>A
ENST00000644484.1:c.*2453T>A	ENSP00000493558.1:n.*2453T>A
ENST00000644675.1:c.*2224T>A	ENSP00000494567.1:n.*2224T>A
ENST00000644757.1:c.*2483T>A	ENSP00000495085.1:n.*2483T>A
ENST00000644772.1:c.4118T>A	ENSP00000494321.1:p.Val1373Glu
ENST00000645004.1:n.1707T>A
ENST00000645076.1:c.3251T>A
ENST00000645417.1:c.1240T>A
ENST00000645744.1:c.*2832T>A	ENSP00000494564.1:n.*2832T>A
ENST00000645760.1:c.4473T>A
ENST00000645884.1:c.*1335T>A	ENSP00000495516.1:n.*1335T>A
ENST00000646003.1:c.*2154T>A	ENSP00000495259.1:n.*2154T>A
ENST00000646207.1:c.*2889T>A	ENSP00000495025.1:n.*2889T>A
ENST00000646276.1:c.*2471T>A	ENSP00000496070.1:n.*2471T>A
ENST00000646592.1:c.3358T>A
ENST00000646902.1:c.4019T>A	ENSP00000494101.1:p.Val1340Glu
ENST00000646993.1:c.*2594T>A	ENSP00000493720.1:n.*2594T>A
ENST00000647013.1:c.4058T>A	ENSP00000496741.1:n.4058T>A
ENST00000647015.1:c.3803T>A	ENSP00000495389.1:p.Val1268Glu
ENST00000647086.1:c.*3638T>A	ENSP00000493677.1:n.*3638T>A
ENST00000647158.1:c.*2339T>A	ENSP00000495744.1:n.*2339T>A
ENST00000302539.8:c.4055T>A	ENSP00000303960.4:p.Val1352Glu
ENST00000389817.7:c.4052T>A	ENSP00000374467.3:p.Val1351Glu
ENST00000527905.5:c.*1074T>A	ENSP00000431653.1:n.*1074T>A
ENST00000528374.1:c.534T>A
ENST00000531137.1:n.617T>A
ENST00000531891.1:c.390T>A
ENST00000532220.1:n.526T>A
NM_000352.4:c.4052T>A	NP_000343.2:p.Val1351Glu
NM_001287174.1:c.4055T>A	NP_001274103.1:p.Val1352Glu
XM_011520331.1:c.4052T>A	XP_011518633.1:p.Val1351Glu
XM_011520332.1:c.4055T>A	XP_011518634.1:p.Val1352Glu
XM_011520333.1:c.2552T>A	XP_011518635.1:p.Val851Glu
XR_930890.1:n.4118T>A
NM_001351295.1:c.4118T>A	NP_001338224.1:p.Val1373Glu
NM_001351296.1:c.4052T>A	NP_001338225.1:p.Val1351Glu
NM_001351297.1:c.4049T>A	NP_001338226.1:p.Val1350Glu
NR_147094.1:n.4347T>A
XM_017018197.2:c.4121T>A	XP_016873686.1:p.Val1374Glu
XM_017018199.1:c.4118T>A	XP_016873688.1:p.Val1373Glu
XM_017018201.2:c.4121T>A	XP_016873690.1:p.Val1374Glu
XM_017018202.1:c.2618T>A	XP_016873691.1:p.Val873Glu
XM_017018204.1:c.2009T>A	XP_016873693.1:p.Val670Glu
XM_024448668.1:c.2420T>A	XP_024304436.1:p.Val807Glu
XR_001747945.2:n.4193T>A
XR_001747946.2:n.4124T>A
XR_002957189.1:n.4789T>A
NM_000352.6:c.4052T>A MANE Select	NP_000343.2:p.Val1351Glu
NM_001287174.2:c.4055T>A	NP_001274103.1:p.Val1352Glu
NM_001351295.2:c.4118T>A	NP_001338224.1:p.Val1373Glu
NM_001351296.2:c.4052T>A	NP_001338225.1:p.Val1351Glu
NM_001351297.2:c.4049T>A	NP_001338226.1:p.Val1350Glu
NR_147094.2:n.4347T>A
NM_001287174.3:c.4055T>A	NP_001274103.1:p.Val1352Glu