Canonical Allele Identifier: CA379805148

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429992G>A (hg19) ; chr11:g.17408445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408445G>A , CM000673.2:g.17408445G>A	GRCh38
NC_000011.9:g.17429992G>A , CM000673.1:g.17429992G>A	GRCh37
NC_000011.8:g.17386568G>A	NCBI36
NG_008867.1:g.73458C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.2436C>T
ENST00000529967.6:n.1026C>T
ENST00000532220.2:n.499C>T
ENST00000642611.2:n.2836C>T
ENST00000682051.1:n.2783C>T
ENST00000682110.1:n.2836C>T
ENST00000682140.1:c.2764C>T	ENSP00000507829.1:p.Leu922Phe
ENST00000682185.1:n.4072C>T
ENST00000682204.1:c.*905C>T	ENSP00000507094.1:n.*905C>T
ENST00000682215.1:n.2833C>T
ENST00000682288.1:c.*1198C>T	ENSP00000507506.1:n.*1198C>T
ENST00000682442.1:n.2957C>T
ENST00000682528.1:n.2833C>T
ENST00000682673.1:n.2780C>T
ENST00000682805.1:n.2833C>T
ENST00000682965.1:c.2764C>T	ENSP00000508229.1:p.Leu922Phe
ENST00000683093.1:n.2935C>T
ENST00000683136.1:c.2764C>T	ENSP00000507768.1:p.Leu922Phe
ENST00000683153.1:n.2992C>T
ENST00000683365.1:n.2938C>T
ENST00000683377.1:n.2836C>T
ENST00000683456.1:c.2767C>T	ENSP00000508318.1:p.Leu923Phe
ENST00000683522.1:n.2836C>T
ENST00000683562.1:c.*936C>T	ENSP00000508265.1:n.*936C>T
ENST00000683693.1:n.2833C>T
ENST00000683725.1:c.2767C>T	ENSP00000507496.1:p.Leu923Phe
ENST00000684010.1:n.2751C>T
ENST00000684157.1:n.2836C>T
ENST00000684253.1:n.2739C>T
ENST00000684288.1:c.*939C>T	ENSP00000507143.1:n.*939C>T
ENST00000684313.1:n.2268C>T
ENST00000684332.1:n.2909C>T
ENST00000684371.1:n.2942C>T
ENST00000684404.1:n.2833C>T
ENST00000684442.1:n.2836C>T
ENST00000684555.1:c.*979C>T	ENSP00000507705.1:n.*979C>T
ENST00000684571.1:c.2608C>T	ENSP00000506935.1:p.Leu870Phe
ENST00000684593.1:c.*2472C>T	ENSP00000507005.1:n.*2472C>T
ENST00000684711.1:c.*1163C>T	ENSP00000506841.1:n.*1163C>T
ENST00000302539.9:c.2770C>T	ENSP00000303960.4:p.Leu924Phe
ENST00000389817.8:c.2767C>T MANE Select	ENSP00000374467.4:p.Leu923Phe
ENST00000642271.1:c.2764C>T	ENSP00000493749.1:p.Leu922Phe
ENST00000642579.1:c.851C>T
ENST00000642611.1:n.2721C>T
ENST00000642902.1:c.2602C>T
ENST00000643260.1:c.2767C>T	ENSP00000494450.1:p.Leu923Phe
ENST00000643562.1:c.*743C>T	ENSP00000496124.1:n.*743C>T
ENST00000643925.1:c.811C>T
ENST00000644447.1:c.1123C>T	ENSP00000496282.1:p.Leu375Phe
ENST00000644472.1:c.*1128C>T	ENSP00000495378.1:n.*1128C>T
ENST00000644484.1:c.*976C>T	ENSP00000493558.1:n.*976C>T
ENST00000644542.1:c.*2472C>T	ENSP00000495532.1:n.*2472C>T
ENST00000644675.1:c.*939C>T	ENSP00000494567.1:n.*939C>T
ENST00000644757.1:c.*1072C>T	ENSP00000495085.1:n.*1072C>T
ENST00000644772.1:c.2833C>T	ENSP00000494321.1:p.Leu945Phe
ENST00000645076.1:c.2019C>T
ENST00000645744.1:c.*1131C>T	ENSP00000494564.1:n.*1131C>T
ENST00000645760.1:c.3042C>T
ENST00000645884.1:c.2767C>T	ENSP00000495516.1:p.Leu923Phe
ENST00000646003.1:c.*823C>T	ENSP00000495259.1:n.*823C>T
ENST00000646207.1:c.*1131C>T	ENSP00000495025.1:n.*1131C>T
ENST00000646276.1:c.*1040C>T	ENSP00000496070.1:n.*1040C>T
ENST00000646592.1:c.1993C>T
ENST00000646902.1:c.2764C>T	ENSP00000494101.1:p.Leu922Phe
ENST00000646993.1:c.*1163C>T	ENSP00000493720.1:n.*1163C>T
ENST00000647013.1:c.2773C>T	ENSP00000496741.1:n.2773C>T
ENST00000647015.1:c.2518C>T	ENSP00000495389.1:p.Leu840Phe
ENST00000647086.1:c.*2497C>T	ENSP00000493677.1:n.*2497C>T
ENST00000647158.1:c.*908C>T	ENSP00000495744.1:n.*908C>T
ENST00000302539.8:c.2770C>T	ENSP00000303960.4:p.Leu924Phe
ENST00000389817.7:c.2767C>T	ENSP00000374467.3:p.Leu923Phe
ENST00000526921.5:n.451C>T
ENST00000527905.5:c.2737C>T	ENSP00000431653.1:p.Leu913Phe
ENST00000529967.5:n.436C>T
NM_000352.4:c.2767C>T	NP_000343.2:p.Leu923Phe
NM_001287174.1:c.2770C>T	NP_001274103.1:p.Leu924Phe
XM_011520331.1:c.2767C>T	XP_011518633.1:p.Leu923Phe
XM_011520332.1:c.2770C>T	XP_011518634.1:p.Leu924Phe
XM_011520333.1:c.1267C>T	XP_011518635.1:p.Leu423Phe
XM_011520334.1:c.2770C>T	XP_011518636.1:p.Leu924Phe
XR_930890.1:n.2833C>T
XR_930891.1:n.2833C>T
XR_930892.1:n.2833C>T
XR_930893.1:n.2830C>T
NM_001351295.1:c.2833C>T	NP_001338224.1:p.Leu945Phe
NM_001351296.1:c.2767C>T	NP_001338225.1:p.Leu923Phe
NM_001351297.1:c.2764C>T	NP_001338226.1:p.Leu922Phe
NR_147094.1:n.2836C>T
XM_017018197.2:c.2836C>T	XP_016873686.1:p.Leu946Phe
XM_017018199.1:c.2833C>T	XP_016873688.1:p.Leu945Phe
XM_017018201.2:c.2836C>T	XP_016873690.1:p.Leu946Phe
XM_017018202.1:c.1333C>T	XP_016873691.1:p.Leu445Phe
XM_017018204.1:c.724C>T	XP_016873693.1:p.Leu242Phe
XM_024448668.1:c.1135C>T	XP_024304436.1:p.Leu379Phe
XR_001747945.2:n.2908C>T
XR_001747946.2:n.2839C>T
XR_002957189.1:n.2908C>T
NM_000352.6:c.2767C>T MANE Select	NP_000343.2:p.Leu923Phe
NM_001287174.2:c.2770C>T	NP_001274103.1:p.Leu924Phe
NM_001351295.2:c.2833C>T	NP_001338224.1:p.Leu945Phe
NM_001351296.2:c.2767C>T	NP_001338225.1:p.Leu923Phe
NM_001351297.2:c.2764C>T	NP_001338226.1:p.Leu922Phe
NR_147094.2:n.2836C>T
NM_001287174.3:c.2770C>T	NP_001274103.1:p.Leu924Phe