Canonical Allele Identifier: CA473298251

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395681-C-A
• MyVariant Identifiers: chr11:g.17417228C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395681C>A , CM000673.2:g.17395681C>A	GRCh38
NC_000011.9:g.17417228C>A , CM000673.1:g.17417228C>A	GRCh37
NC_000011.8:g.17373804C>A	NCBI36
NG_008867.1:g.86222G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3837G>T
ENST00000528374.2:c.827G>T
ENST00000529967.6:n.2575G>T
ENST00000532220.2:n.3469G>T
ENST00000642611.2:n.5569G>T
ENST00000644057.2:n.812G>T
ENST00000645004.2:n.1735G>T
ENST00000682051.1:n.4398G>T
ENST00000682110.1:n.4451G>T
ENST00000682140.1:c.*22G>T	ENSP00000507829.1:n.*22G>T
ENST00000682185.1:n.5541G>T
ENST00000682204.1:c.*2374G>T	ENSP00000507094.1:n.*2374G>T
ENST00000682215.1:n.4818G>T
ENST00000682288.1:c.*2667G>T	ENSP00000507506.1:n.*2667G>T
ENST00000682442.1:n.4671G>T
ENST00000682528.1:n.4528G>T
ENST00000682673.1:n.4395G>T
ENST00000682805.1:n.4856G>T
ENST00000682965.1:c.*658G>T	ENSP00000508229.1:n.*658G>T
ENST00000683093.1:n.5535G>T
ENST00000683136.1:c.4119G>T	ENSP00000507768.1:p.Leu1373=
ENST00000683153.1:n.4493G>T
ENST00000683365.1:n.4553G>T
ENST00000683377.1:n.4451G>T
ENST00000683456.1:c.*1373G>T	ENSP00000508318.1:n.*1373G>T
ENST00000683522.1:n.4451G>T
ENST00000683562.1:c.*2405G>T	ENSP00000508265.1:n.*2405G>T
ENST00000683693.1:n.6016G>T
ENST00000683725.1:c.4236G>T	ENSP00000507496.1:p.Leu1412=
ENST00000684010.1:n.4446G>T
ENST00000684157.1:n.5436G>T
ENST00000684253.1:n.4354G>T
ENST00000684288.1:c.*2408G>T	ENSP00000507143.1:n.*2408G>T
ENST00000684313.1:n.3883G>T
ENST00000684332.1:n.4524G>T
ENST00000684371.1:n.4557G>T
ENST00000684404.1:n.5479G>T
ENST00000684442.1:n.4675G>T
ENST00000684555.1:c.*2448G>T	ENSP00000507705.1:n.*2448G>T
ENST00000684571.1:c.4077G>T	ENSP00000506935.1:p.Leu1359=
ENST00000684593.1:c.*3941G>T	ENSP00000507005.1:n.*3941G>T
ENST00000684711.1:c.*2632G>T	ENSP00000506841.1:n.*2632G>T
ENST00000302539.9:c.4239G>T	ENSP00000303960.4:p.Leu1413=
ENST00000389817.8:c.4236G>T MANE Select	ENSP00000374467.4:p.Leu1412=
ENST00000642271.1:c.4233G>T	ENSP00000493749.1:p.Leu1411=
ENST00000642579.1:c.2290G>T
ENST00000642611.1:n.5454G>T
ENST00000642902.1:c.4018G>T
ENST00000643260.1:c.4236G>T	ENSP00000494450.1:p.Leu1412=
ENST00000643562.1:c.*2358G>T	ENSP00000496124.1:n.*2358G>T
ENST00000643925.1:c.2876G>T
ENST00000644057.1:n.313G>T
ENST00000644484.1:c.*3622G>T	ENSP00000493558.1:n.*3622G>T
ENST00000644675.1:c.*2408G>T	ENSP00000494567.1:n.*2408G>T
ENST00000644757.1:c.*3202+583G>T	ENSP00000495085.1:n.*3202+583G>T
ENST00000644772.1:c.4302G>T	ENSP00000494321.1:p.Leu1434=
ENST00000645004.1:n.1929G>T
ENST00000645076.1:c.3435G>T
ENST00000645417.1:c.1424G>T
ENST00000645744.1:c.*3964-43G>T	ENSP00000494564.1:n.*3964-43G>T
ENST00000645760.1:c.4657G>T
ENST00000645884.1:c.*1519G>T	ENSP00000495516.1:n.*1519G>T
ENST00000646003.1:c.*2301-43G>T	ENSP00000495259.1:n.*2301-43G>T
ENST00000646207.1:c.*3073G>T	ENSP00000495025.1:n.*3073G>T
ENST00000646276.1:c.*3640G>T	ENSP00000496070.1:n.*3640G>T
ENST00000646592.1:c.3542G>T
ENST00000646902.1:c.4203G>T	ENSP00000494101.1:p.Leu1401=
ENST00000646993.1:c.*2778G>T	ENSP00000493720.1:n.*2778G>T
ENST00000647013.1:c.4242G>T	ENSP00000496741.1:n.4242G>T
ENST00000647015.1:c.3987G>T	ENSP00000495389.1:p.Leu1329=
ENST00000647086.1:c.*3822G>T	ENSP00000493677.1:n.*3822G>T
ENST00000647158.1:c.*2523G>T	ENSP00000495744.1:n.*2523G>T
ENST00000302539.8:c.4239G>T	ENSP00000303960.4:p.Leu1413=
ENST00000389817.7:c.4236G>T	ENSP00000374467.3:p.Leu1412=
ENST00000525022.1:n.235G>T
ENST00000526037.5:n.100G>T
ENST00000526168.5:c.67-43G>T
ENST00000531642.5:c.72G>T
NM_000352.4:c.4236G>T	NP_000343.2:p.Leu1412=
NM_001287174.1:c.4239G>T	NP_001274103.1:p.Leu1413=
XM_011520331.1:c.4236G>T	XP_011518633.1:p.Leu1412=
XM_011520332.1:c.4239G>T	XP_011518634.1:p.Leu1413=
XM_011520333.1:c.2736G>T	XP_011518635.1:p.Leu912=
XR_930890.1:n.4302G>T
NM_001351295.1:c.4302G>T	NP_001338224.1:p.Leu1434=
NM_001351296.1:c.4236G>T	NP_001338225.1:p.Leu1412=
NM_001351297.1:c.4233G>T	NP_001338226.1:p.Leu1411=
NR_147094.1:n.4531G>T
XM_017018197.2:c.4305G>T	XP_016873686.1:p.Leu1435=
XM_017018199.1:c.4302G>T	XP_016873688.1:p.Leu1434=
XM_017018201.2:c.4305G>T	XP_016873690.1:p.Leu1435=
XM_017018202.1:c.2802G>T	XP_016873691.1:p.Leu934=
XM_017018204.1:c.2193G>T	XP_016873693.1:p.Leu731=
XM_024448668.1:c.2604G>T	XP_024304436.1:p.Leu868=
XR_001747945.2:n.4377G>T
XR_001747946.2:n.4308G>T
XR_002957189.1:n.6091G>T
NM_000352.6:c.4236G>T MANE Select	NP_000343.2:p.Leu1412=
NM_001287174.2:c.4239G>T	NP_001274103.1:p.Leu1413=
NM_001351295.2:c.4302G>T	NP_001338224.1:p.Leu1434=
NM_001351296.2:c.4236G>T	NP_001338225.1:p.Leu1412=
NM_001351297.2:c.4233G>T	NP_001338226.1:p.Leu1411=
NR_147094.2:n.4531G>T
NM_001287174.3:c.4239G>T	NP_001274103.1:p.Leu1413=