Canonical Allele Identifier: CA473515837

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428504G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406957G>A , CM000673.2:g.17406957G>A	GRCh38
NC_000011.9:g.17428504G>A , CM000673.1:g.17428504G>A	GRCh37
NC_000011.8:g.17385080G>A	NCBI36
NG_008867.1:g.74946C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2662C>T
ENST00000529967.6:n.1432C>T
ENST00000532220.2:n.825C>T
ENST00000642611.2:n.3162C>T
ENST00000645004.2:n.592C>T
ENST00000682051.1:n.3109C>T
ENST00000682110.1:n.3162C>T
ENST00000682140.1:c.3090C>T	ENSP00000507829.1:p.Tyr1030=
ENST00000682185.1:n.4398C>T
ENST00000682204.1:c.*1231C>T	ENSP00000507094.1:n.*1231C>T
ENST00000682215.1:n.3159C>T
ENST00000682288.1:c.*1524C>T	ENSP00000507506.1:n.*1524C>T
ENST00000682442.1:n.3283C>T
ENST00000682528.1:n.3239C>T
ENST00000682673.1:n.3106C>T
ENST00000682805.1:n.3159C>T
ENST00000682965.1:c.3090C>T	ENSP00000508229.1:p.Tyr1030=
ENST00000683093.1:n.3261C>T
ENST00000683136.1:c.3090C>T	ENSP00000507768.1:p.Tyr1030=
ENST00000683153.1:n.3318C>T
ENST00000683365.1:n.3264C>T
ENST00000683377.1:n.3162C>T
ENST00000683456.1:c.*230C>T	ENSP00000508318.1:n.*230C>T
ENST00000683522.1:n.3162C>T
ENST00000683562.1:c.*1262C>T	ENSP00000508265.1:n.*1262C>T
ENST00000683693.1:n.3239C>T
ENST00000683725.1:c.3093C>T	ENSP00000507496.1:p.Tyr1031=
ENST00000684010.1:n.3157C>T
ENST00000684157.1:n.3162C>T
ENST00000684253.1:n.3065C>T
ENST00000684288.1:c.*1265C>T	ENSP00000507143.1:n.*1265C>T
ENST00000684313.1:n.2594C>T
ENST00000684332.1:n.3235C>T
ENST00000684371.1:n.3268C>T
ENST00000684404.1:n.3205C>T
ENST00000684442.1:n.3162C>T
ENST00000684555.1:c.*1305C>T	ENSP00000507705.1:n.*1305C>T
ENST00000684571.1:c.2934C>T	ENSP00000506935.1:p.Tyr978=
ENST00000684593.1:c.*2798C>T	ENSP00000507005.1:n.*2798C>T
ENST00000684711.1:c.*1489C>T	ENSP00000506841.1:n.*1489C>T
ENST00000302539.9:c.3096C>T	ENSP00000303960.4:p.Tyr1032=
ENST00000389817.8:c.3093C>T MANE Select	ENSP00000374467.4:p.Tyr1031=
ENST00000642271.1:c.3090C>T	ENSP00000493749.1:p.Tyr1030=
ENST00000642579.1:c.1177C>T
ENST00000642611.1:n.3047C>T
ENST00000642902.1:c.2875C>T
ENST00000643260.1:c.3093C>T	ENSP00000494450.1:p.Tyr1031=
ENST00000643562.1:c.*1069C>T	ENSP00000496124.1:n.*1069C>T
ENST00000643925.1:c.1217C>T
ENST00000644447.1:c.1449C>T	ENSP00000496282.1:p.Tyr483=
ENST00000644484.1:c.*1348C>T	ENSP00000493558.1:n.*1348C>T
ENST00000644542.1:c.*2798C>T	ENSP00000495532.1:n.*2798C>T
ENST00000644675.1:c.*1265C>T	ENSP00000494567.1:n.*1265C>T
ENST00000644757.1:c.*1378C>T	ENSP00000495085.1:n.*1378C>T
ENST00000644772.1:c.3159C>T	ENSP00000494321.1:p.Tyr1053=
ENST00000645004.1:n.232C>T
ENST00000645076.1:c.2292C>T
ENST00000645417.1:c.259C>T
ENST00000645744.1:c.*1357C>T	ENSP00000494564.1:n.*1357C>T
ENST00000645760.1:c.3368C>T
ENST00000645884.1:c.*230C>T	ENSP00000495516.1:n.*230C>T
ENST00000646003.1:c.*1049C>T	ENSP00000495259.1:n.*1049C>T
ENST00000646207.1:c.*1560C>T	ENSP00000495025.1:n.*1560C>T
ENST00000646276.1:c.*1366C>T	ENSP00000496070.1:n.*1366C>T
ENST00000646592.1:c.2399C>T
ENST00000646902.1:c.3090C>T	ENSP00000494101.1:p.Tyr1030=
ENST00000646993.1:c.*1489C>T	ENSP00000493720.1:n.*1489C>T
ENST00000647013.1:c.3099C>T	ENSP00000496741.1:n.3099C>T
ENST00000647015.1:c.2844C>T	ENSP00000495389.1:p.Tyr948=
ENST00000647086.1:c.*2823C>T	ENSP00000493677.1:n.*2823C>T
ENST00000647158.1:c.*1234C>T	ENSP00000495744.1:n.*1234C>T
ENST00000302539.8:c.3096C>T	ENSP00000303960.4:p.Tyr1032=
ENST00000389817.7:c.3093C>T	ENSP00000374467.3:p.Tyr1031=
ENST00000524561.1:n.225C>T
ENST00000526921.5:n.777C>T
ENST00000527905.5:c.2963C>T	ENSP00000431653.1:p.Thr988Ile
ENST00000529967.5:n.762C>T
NM_000352.4:c.3093C>T	NP_000343.2:p.Tyr1031=
NM_001287174.1:c.3096C>T	NP_001274103.1:p.Tyr1032=
XM_011520331.1:c.3093C>T	XP_011518633.1:p.Tyr1031=
XM_011520332.1:c.3096C>T	XP_011518634.1:p.Tyr1032=
XM_011520333.1:c.1593C>T	XP_011518635.1:p.Tyr531=
XR_930890.1:n.3159C>T
XR_930891.1:n.3159C>T
XR_930892.1:n.3059C>T
XR_930893.1:n.3056C>T
NM_001351295.1:c.3159C>T	NP_001338224.1:p.Tyr1053=
NM_001351296.1:c.3093C>T	NP_001338225.1:p.Tyr1031=
NM_001351297.1:c.3090C>T	NP_001338226.1:p.Tyr1030=
NR_147094.1:n.3242C>T
XM_017018197.2:c.3162C>T	XP_016873686.1:p.Tyr1054=
XM_017018199.1:c.3159C>T	XP_016873688.1:p.Tyr1053=
XM_017018201.2:c.3162C>T	XP_016873690.1:p.Tyr1054=
XM_017018202.1:c.1659C>T	XP_016873691.1:p.Tyr553=
XM_017018204.1:c.1050C>T	XP_016873693.1:p.Tyr350=
XM_024448668.1:c.1461C>T	XP_024304436.1:p.Tyr487=
XR_001747945.2:n.3234C>T
XR_001747946.2:n.3165C>T
XR_002957189.1:n.3314C>T
NM_000352.6:c.3093C>T MANE Select	NP_000343.2:p.Tyr1031=
NM_001287174.2:c.3096C>T	NP_001274103.1:p.Tyr1032=
NM_001351295.2:c.3159C>T	NP_001338224.1:p.Tyr1053=
NM_001351296.2:c.3093C>T	NP_001338225.1:p.Tyr1031=
NM_001351297.2:c.3090C>T	NP_001338226.1:p.Tyr1030=
NR_147094.2:n.3242C>T
NM_001287174.3:c.3096C>T	NP_001274103.1:p.Tyr1032=