Canonical Allele Identifier: CA379805238

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17430004A>T (hg19) ; chr11:g.17408457A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408457A>T , CM000673.2:g.17408457A>T	GRCh38
NC_000011.9:g.17430004A>T , CM000673.1:g.17430004A>T	GRCh37
NC_000011.8:g.17386580A>T	NCBI36
NG_008867.1:g.73446T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2424T>A
ENST00000529967.6:n.1014T>A
ENST00000532220.2:n.487T>A
ENST00000642611.2:n.2824T>A
ENST00000682051.1:n.2771T>A
ENST00000682110.1:n.2824T>A
ENST00000682140.1:c.2752T>A	ENSP00000507829.1:p.Ser918Thr
ENST00000682185.1:n.4060T>A
ENST00000682204.1:c.*893T>A	ENSP00000507094.1:n.*893T>A
ENST00000682215.1:n.2821T>A
ENST00000682288.1:c.*1186T>A	ENSP00000507506.1:n.*1186T>A
ENST00000682442.1:n.2945T>A
ENST00000682528.1:n.2821T>A
ENST00000682673.1:n.2768T>A
ENST00000682805.1:n.2821T>A
ENST00000682965.1:c.2752T>A	ENSP00000508229.1:p.Ser918Thr
ENST00000683093.1:n.2923T>A
ENST00000683136.1:c.2752T>A	ENSP00000507768.1:p.Ser918Thr
ENST00000683153.1:n.2980T>A
ENST00000683365.1:n.2926T>A
ENST00000683377.1:n.2824T>A
ENST00000683456.1:c.2755T>A	ENSP00000508318.1:p.Ser919Thr
ENST00000683522.1:n.2824T>A
ENST00000683562.1:c.*924T>A	ENSP00000508265.1:n.*924T>A
ENST00000683693.1:n.2821T>A
ENST00000683725.1:c.2755T>A	ENSP00000507496.1:p.Ser919Thr
ENST00000684010.1:n.2739T>A
ENST00000684157.1:n.2824T>A
ENST00000684253.1:n.2727T>A
ENST00000684288.1:c.*927T>A	ENSP00000507143.1:n.*927T>A
ENST00000684313.1:n.2256T>A
ENST00000684332.1:n.2897T>A
ENST00000684371.1:n.2930T>A
ENST00000684404.1:n.2821T>A
ENST00000684442.1:n.2824T>A
ENST00000684555.1:c.*967T>A	ENSP00000507705.1:n.*967T>A
ENST00000684571.1:c.2596T>A	ENSP00000506935.1:p.Ser866Thr
ENST00000684593.1:c.*2460T>A	ENSP00000507005.1:n.*2460T>A
ENST00000684711.1:c.*1151T>A	ENSP00000506841.1:n.*1151T>A
ENST00000302539.9:c.2758T>A	ENSP00000303960.4:p.Ser920Thr
ENST00000389817.8:c.2755T>A MANE Select	ENSP00000374467.4:p.Ser919Thr
ENST00000642271.1:c.2752T>A	ENSP00000493749.1:p.Ser918Thr
ENST00000642579.1:c.839T>A
ENST00000642611.1:n.2709T>A
ENST00000642902.1:c.2590T>A
ENST00000643260.1:c.2755T>A	ENSP00000494450.1:p.Ser919Thr
ENST00000643562.1:c.*731T>A	ENSP00000496124.1:n.*731T>A
ENST00000643925.1:c.799T>A
ENST00000644447.1:c.1111T>A	ENSP00000496282.1:p.Ser371Thr
ENST00000644472.1:c.*1116T>A	ENSP00000495378.1:n.*1116T>A
ENST00000644484.1:c.*964T>A	ENSP00000493558.1:n.*964T>A
ENST00000644542.1:c.*2460T>A	ENSP00000495532.1:n.*2460T>A
ENST00000644675.1:c.*927T>A	ENSP00000494567.1:n.*927T>A
ENST00000644757.1:c.*1060T>A	ENSP00000495085.1:n.*1060T>A
ENST00000644772.1:c.2821T>A	ENSP00000494321.1:p.Ser941Thr
ENST00000645076.1:c.2007T>A
ENST00000645744.1:c.*1119T>A	ENSP00000494564.1:n.*1119T>A
ENST00000645760.1:c.3030T>A
ENST00000645884.1:c.2755T>A	ENSP00000495516.1:p.Ser919Thr
ENST00000646003.1:c.*811T>A	ENSP00000495259.1:n.*811T>A
ENST00000646207.1:c.*1119T>A	ENSP00000495025.1:n.*1119T>A
ENST00000646276.1:c.*1028T>A	ENSP00000496070.1:n.*1028T>A
ENST00000646592.1:c.1981T>A
ENST00000646902.1:c.2752T>A	ENSP00000494101.1:p.Ser918Thr
ENST00000646993.1:c.*1151T>A	ENSP00000493720.1:n.*1151T>A
ENST00000647013.1:c.2761T>A	ENSP00000496741.1:n.2761T>A
ENST00000647015.1:c.2506T>A	ENSP00000495389.1:p.Ser836Thr
ENST00000647086.1:c.*2485T>A	ENSP00000493677.1:n.*2485T>A
ENST00000647158.1:c.*896T>A	ENSP00000495744.1:n.*896T>A
ENST00000302539.8:c.2758T>A	ENSP00000303960.4:p.Ser920Thr
ENST00000389817.7:c.2755T>A	ENSP00000374467.3:p.Ser919Thr
ENST00000526921.5:n.439T>A
ENST00000527905.5:c.2725T>A	ENSP00000431653.1:p.Ser909Thr
ENST00000529967.5:n.424T>A
NM_000352.4:c.2755T>A	NP_000343.2:p.Ser919Thr
NM_001287174.1:c.2758T>A	NP_001274103.1:p.Ser920Thr
XM_011520331.1:c.2755T>A	XP_011518633.1:p.Ser919Thr
XM_011520332.1:c.2758T>A	XP_011518634.1:p.Ser920Thr
XM_011520333.1:c.1255T>A	XP_011518635.1:p.Ser419Thr
XM_011520334.1:c.2758T>A	XP_011518636.1:p.Ser920Thr
XR_930890.1:n.2821T>A
XR_930891.1:n.2821T>A
XR_930892.1:n.2821T>A
XR_930893.1:n.2818T>A
NM_001351295.1:c.2821T>A	NP_001338224.1:p.Ser941Thr
NM_001351296.1:c.2755T>A	NP_001338225.1:p.Ser919Thr
NM_001351297.1:c.2752T>A	NP_001338226.1:p.Ser918Thr
NR_147094.1:n.2824T>A
XM_017018197.2:c.2824T>A	XP_016873686.1:p.Ser942Thr
XM_017018199.1:c.2821T>A	XP_016873688.1:p.Ser941Thr
XM_017018201.2:c.2824T>A	XP_016873690.1:p.Ser942Thr
XM_017018202.1:c.1321T>A	XP_016873691.1:p.Ser441Thr
XM_017018204.1:c.712T>A	XP_016873693.1:p.Ser238Thr
XM_024448668.1:c.1123T>A	XP_024304436.1:p.Ser375Thr
XR_001747945.2:n.2896T>A
XR_001747946.2:n.2827T>A
XR_002957189.1:n.2896T>A
NM_000352.6:c.2755T>A MANE Select	NP_000343.2:p.Ser919Thr
NM_001287174.2:c.2758T>A	NP_001274103.1:p.Ser920Thr
NM_001351295.2:c.2821T>A	NP_001338224.1:p.Ser941Thr
NM_001351296.2:c.2755T>A	NP_001338225.1:p.Ser919Thr
NM_001351297.2:c.2752T>A	NP_001338226.1:p.Ser918Thr
NR_147094.2:n.2824T>A
NM_001287174.3:c.2758T>A	NP_001274103.1:p.Ser920Thr