Canonical Allele Identifier: CA473300528

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429969G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408422G>A , CM000673.2:g.17408422G>A	GRCh38
NC_000011.9:g.17429969G>A , CM000673.1:g.17429969G>A	GRCh37
NC_000011.8:g.17386545G>A	NCBI36
NG_008867.1:g.73481C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2459C>T
ENST00000529967.6:n.1049C>T
ENST00000532220.2:n.522C>T
ENST00000642611.2:n.2859C>T
ENST00000682051.1:n.2806C>T
ENST00000682110.1:n.2859C>T
ENST00000682140.1:c.2787C>T	ENSP00000507829.1:p.Leu929=
ENST00000682185.1:n.4095C>T
ENST00000682204.1:c.*928C>T	ENSP00000507094.1:n.*928C>T
ENST00000682215.1:n.2856C>T
ENST00000682288.1:c.*1221C>T	ENSP00000507506.1:n.*1221C>T
ENST00000682442.1:n.2980C>T
ENST00000682528.1:n.2856C>T
ENST00000682673.1:n.2803C>T
ENST00000682805.1:n.2856C>T
ENST00000682965.1:c.2787C>T	ENSP00000508229.1:p.Leu929=
ENST00000683093.1:n.2958C>T
ENST00000683136.1:c.2787C>T	ENSP00000507768.1:p.Leu929=
ENST00000683153.1:n.3015C>T
ENST00000683365.1:n.2961C>T
ENST00000683377.1:n.2859C>T
ENST00000683456.1:c.2790C>T	ENSP00000508318.1:p.Leu930=
ENST00000683522.1:n.2859C>T
ENST00000683562.1:c.*959C>T	ENSP00000508265.1:n.*959C>T
ENST00000683693.1:n.2856C>T
ENST00000683725.1:c.2790C>T	ENSP00000507496.1:p.Leu930=
ENST00000684010.1:n.2774C>T
ENST00000684157.1:n.2859C>T
ENST00000684253.1:n.2762C>T
ENST00000684288.1:c.*962C>T	ENSP00000507143.1:n.*962C>T
ENST00000684313.1:n.2291C>T
ENST00000684332.1:n.2932C>T
ENST00000684371.1:n.2965C>T
ENST00000684404.1:n.2856C>T
ENST00000684442.1:n.2859C>T
ENST00000684555.1:c.*1002C>T	ENSP00000507705.1:n.*1002C>T
ENST00000684571.1:c.2631C>T	ENSP00000506935.1:p.Leu877=
ENST00000684593.1:c.*2495C>T	ENSP00000507005.1:n.*2495C>T
ENST00000684711.1:c.*1186C>T	ENSP00000506841.1:n.*1186C>T
ENST00000302539.9:c.2793C>T	ENSP00000303960.4:p.Leu931=
ENST00000389817.8:c.2790C>T MANE Select	ENSP00000374467.4:p.Leu930=
ENST00000642271.1:c.2787C>T	ENSP00000493749.1:p.Leu929=
ENST00000642579.1:c.874C>T
ENST00000642611.1:n.2744C>T
ENST00000642902.1:c.2625C>T
ENST00000643260.1:c.2790C>T	ENSP00000494450.1:p.Leu930=
ENST00000643562.1:c.*766C>T	ENSP00000496124.1:n.*766C>T
ENST00000643925.1:c.834C>T
ENST00000644447.1:c.1146C>T	ENSP00000496282.1:p.Leu382=
ENST00000644484.1:c.*999C>T	ENSP00000493558.1:n.*999C>T
ENST00000644542.1:c.*2495C>T	ENSP00000495532.1:n.*2495C>T
ENST00000644675.1:c.*962C>T	ENSP00000494567.1:n.*962C>T
ENST00000644757.1:c.*1095C>T	ENSP00000495085.1:n.*1095C>T
ENST00000644772.1:c.2856C>T	ENSP00000494321.1:p.Leu952=
ENST00000645076.1:c.2042C>T
ENST00000645744.1:c.*1154C>T	ENSP00000494564.1:n.*1154C>T
ENST00000645760.1:c.3065C>T
ENST00000645884.1:c.2790C>T	ENSP00000495516.1:p.Leu930=
ENST00000646003.1:c.*846C>T	ENSP00000495259.1:n.*846C>T
ENST00000646207.1:c.*1154C>T	ENSP00000495025.1:n.*1154C>T
ENST00000646276.1:c.*1063C>T	ENSP00000496070.1:n.*1063C>T
ENST00000646592.1:c.2016C>T
ENST00000646902.1:c.2787C>T	ENSP00000494101.1:p.Leu929=
ENST00000646993.1:c.*1186C>T	ENSP00000493720.1:n.*1186C>T
ENST00000647013.1:c.2796C>T	ENSP00000496741.1:n.2796C>T
ENST00000647015.1:c.2541C>T	ENSP00000495389.1:p.Leu847=
ENST00000647086.1:c.*2520C>T	ENSP00000493677.1:n.*2520C>T
ENST00000647158.1:c.*931C>T	ENSP00000495744.1:n.*931C>T
ENST00000302539.8:c.2793C>T	ENSP00000303960.4:p.Leu931=
ENST00000389817.7:c.2790C>T	ENSP00000374467.3:p.Leu930=
ENST00000526921.5:n.474C>T
ENST00000527905.5:c.2760C>T	ENSP00000431653.1:p.Leu920=
ENST00000529967.5:n.459C>T
NM_000352.4:c.2790C>T	NP_000343.2:p.Leu930=
NM_001287174.1:c.2793C>T	NP_001274103.1:p.Leu931=
XM_011520331.1:c.2790C>T	XP_011518633.1:p.Leu930=
XM_011520332.1:c.2793C>T	XP_011518634.1:p.Leu931=
XM_011520333.1:c.1290C>T	XP_011518635.1:p.Leu430=
XM_011520334.1:c.2793C>T	XP_011518636.1:p.Leu931=
XR_930890.1:n.2856C>T
XR_930891.1:n.2856C>T
XR_930892.1:n.2856C>T
XR_930893.1:n.2853C>T
NM_001351295.1:c.2856C>T	NP_001338224.1:p.Leu952=
NM_001351296.1:c.2790C>T	NP_001338225.1:p.Leu930=
NM_001351297.1:c.2787C>T	NP_001338226.1:p.Leu929=
NR_147094.1:n.2859C>T
XM_017018197.2:c.2859C>T	XP_016873686.1:p.Leu953=
XM_017018199.1:c.2856C>T	XP_016873688.1:p.Leu952=
XM_017018201.2:c.2859C>T	XP_016873690.1:p.Leu953=
XM_017018202.1:c.1356C>T	XP_016873691.1:p.Leu452=
XM_017018204.1:c.747C>T	XP_016873693.1:p.Leu249=
XM_024448668.1:c.1158C>T	XP_024304436.1:p.Leu386=
XR_001747945.2:n.2931C>T
XR_001747946.2:n.2862C>T
XR_002957189.1:n.2931C>T
NM_000352.6:c.2790C>T MANE Select	NP_000343.2:p.Leu930=
NM_001287174.2:c.2793C>T	NP_001274103.1:p.Leu931=
NM_001351295.2:c.2856C>T	NP_001338224.1:p.Leu952=
NM_001351296.2:c.2790C>T	NP_001338225.1:p.Leu930=
NM_001351297.2:c.2787C>T	NP_001338226.1:p.Leu929=
NR_147094.2:n.2859C>T
NM_001287174.3:c.2793C>T	NP_001274103.1:p.Leu931=