Canonical Allele Identifier: CA473298247

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395675-C-A
• MyVariant Identifiers: chr11:g.17417222C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395675C>A , CM000673.2:g.17395675C>A	GRCh38
NC_000011.9:g.17417222C>A , CM000673.1:g.17417222C>A	GRCh37
NC_000011.8:g.17373798C>A	NCBI36
NG_008867.1:g.86228G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3843G>T
ENST00000528374.2:c.833G>T
ENST00000529967.6:n.2581G>T
ENST00000532220.2:n.3475G>T
ENST00000642611.2:n.5575G>T
ENST00000644057.2:n.818G>T
ENST00000645004.2:n.1741G>T
ENST00000682051.1:n.4404G>T
ENST00000682110.1:n.4457G>T
ENST00000682140.1:c.*28G>T	ENSP00000507829.1:n.*28G>T
ENST00000682185.1:n.5547G>T
ENST00000682204.1:c.*2380G>T	ENSP00000507094.1:n.*2380G>T
ENST00000682215.1:n.4824G>T
ENST00000682288.1:c.*2673G>T	ENSP00000507506.1:n.*2673G>T
ENST00000682442.1:n.4677G>T
ENST00000682528.1:n.4534G>T
ENST00000682673.1:n.4401G>T
ENST00000682805.1:n.4862G>T
ENST00000682965.1:c.*664G>T	ENSP00000508229.1:n.*664G>T
ENST00000683093.1:n.5541G>T
ENST00000683136.1:c.4125G>T	ENSP00000507768.1:p.Leu1375=
ENST00000683153.1:n.4499G>T
ENST00000683365.1:n.4559G>T
ENST00000683377.1:n.4457G>T
ENST00000683456.1:c.*1379G>T	ENSP00000508318.1:n.*1379G>T
ENST00000683522.1:n.4457G>T
ENST00000683562.1:c.*2411G>T	ENSP00000508265.1:n.*2411G>T
ENST00000683693.1:n.6022G>T
ENST00000683725.1:c.4242G>T	ENSP00000507496.1:p.Leu1414=
ENST00000684010.1:n.4452G>T
ENST00000684157.1:n.5442G>T
ENST00000684253.1:n.4360G>T
ENST00000684288.1:c.*2414G>T	ENSP00000507143.1:n.*2414G>T
ENST00000684313.1:n.3889G>T
ENST00000684332.1:n.4530G>T
ENST00000684371.1:n.4563G>T
ENST00000684404.1:n.5485G>T
ENST00000684442.1:n.4681G>T
ENST00000684555.1:c.*2454G>T	ENSP00000507705.1:n.*2454G>T
ENST00000684571.1:c.4083G>T	ENSP00000506935.1:p.Leu1361=
ENST00000684593.1:c.*3947G>T	ENSP00000507005.1:n.*3947G>T
ENST00000684711.1:c.*2638G>T	ENSP00000506841.1:n.*2638G>T
ENST00000302539.9:c.4245G>T	ENSP00000303960.4:p.Leu1415=
ENST00000389817.8:c.4242G>T MANE Select	ENSP00000374467.4:p.Leu1414=
ENST00000642271.1:c.4239G>T	ENSP00000493749.1:p.Leu1413=
ENST00000642579.1:c.2296G>T
ENST00000642611.1:n.5460G>T
ENST00000642902.1:c.4024G>T
ENST00000643260.1:c.4242G>T	ENSP00000494450.1:p.Leu1414=
ENST00000643562.1:c.*2364G>T	ENSP00000496124.1:n.*2364G>T
ENST00000643925.1:c.2882G>T
ENST00000644057.1:n.319G>T
ENST00000644484.1:c.*3628G>T	ENSP00000493558.1:n.*3628G>T
ENST00000644675.1:c.*2414G>T	ENSP00000494567.1:n.*2414G>T
ENST00000644757.1:c.*3202+589G>T	ENSP00000495085.1:n.*3202+589G>T
ENST00000644772.1:c.4308G>T	ENSP00000494321.1:p.Leu1436=
ENST00000645004.1:n.1935G>T
ENST00000645076.1:c.3441G>T
ENST00000645417.1:c.1430G>T
ENST00000645744.1:c.*3964-37G>T	ENSP00000494564.1:n.*3964-37G>T
ENST00000645760.1:c.4663G>T
ENST00000645884.1:c.*1525G>T	ENSP00000495516.1:n.*1525G>T
ENST00000646003.1:c.*2301-37G>T	ENSP00000495259.1:n.*2301-37G>T
ENST00000646207.1:c.*3079G>T	ENSP00000495025.1:n.*3079G>T
ENST00000646276.1:c.*3646G>T	ENSP00000496070.1:n.*3646G>T
ENST00000646592.1:c.3548G>T
ENST00000646902.1:c.4209G>T	ENSP00000494101.1:p.Leu1403=
ENST00000646993.1:c.*2784G>T	ENSP00000493720.1:n.*2784G>T
ENST00000647013.1:c.4248G>T	ENSP00000496741.1:n.4248G>T
ENST00000647015.1:c.3993G>T	ENSP00000495389.1:p.Leu1331=
ENST00000647086.1:c.*3828G>T	ENSP00000493677.1:n.*3828G>T
ENST00000647158.1:c.*2529G>T	ENSP00000495744.1:n.*2529G>T
ENST00000302539.8:c.4245G>T	ENSP00000303960.4:p.Leu1415=
ENST00000389817.7:c.4242G>T	ENSP00000374467.3:p.Leu1414=
ENST00000525022.1:n.241G>T
ENST00000526037.5:n.106G>T
ENST00000526168.5:c.67-37G>T
ENST00000531642.5:c.78G>T
NM_000352.4:c.4242G>T	NP_000343.2:p.Leu1414=
NM_001287174.1:c.4245G>T	NP_001274103.1:p.Leu1415=
XM_011520331.1:c.4242G>T	XP_011518633.1:p.Leu1414=
XM_011520332.1:c.4245G>T	XP_011518634.1:p.Leu1415=
XM_011520333.1:c.2742G>T	XP_011518635.1:p.Leu914=
XR_930890.1:n.4308G>T
NM_001351295.1:c.4308G>T	NP_001338224.1:p.Leu1436=
NM_001351296.1:c.4242G>T	NP_001338225.1:p.Leu1414=
NM_001351297.1:c.4239G>T	NP_001338226.1:p.Leu1413=
NR_147094.1:n.4537G>T
XM_017018197.2:c.4311G>T	XP_016873686.1:p.Leu1437=
XM_017018199.1:c.4308G>T	XP_016873688.1:p.Leu1436=
XM_017018201.2:c.4311G>T	XP_016873690.1:p.Leu1437=
XM_017018202.1:c.2808G>T	XP_016873691.1:p.Leu936=
XM_017018204.1:c.2199G>T	XP_016873693.1:p.Leu733=
XM_024448668.1:c.2610G>T	XP_024304436.1:p.Leu870=
XR_001747945.2:n.4383G>T
XR_001747946.2:n.4314G>T
XR_002957189.1:n.6097G>T
NM_000352.6:c.4242G>T MANE Select	NP_000343.2:p.Leu1414=
NM_001287174.2:c.4245G>T	NP_001274103.1:p.Leu1415=
NM_001351295.2:c.4308G>T	NP_001338224.1:p.Leu1436=
NM_001351296.2:c.4242G>T	NP_001338225.1:p.Leu1414=
NM_001351297.2:c.4239G>T	NP_001338226.1:p.Leu1413=
NR_147094.2:n.4537G>T
NM_001287174.3:c.4245G>T	NP_001274103.1:p.Leu1415=