Canonical Allele Identifier: CA473298249

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395677-G-A
• MyVariant Identifiers: chr11:g.17417224G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395677G>A , CM000673.2:g.17395677G>A	GRCh38
NC_000011.9:g.17417224G>A , CM000673.1:g.17417224G>A	GRCh37
NC_000011.8:g.17373800G>A	NCBI36
NG_008867.1:g.86226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3841C>T
ENST00000528374.2:c.831C>T
ENST00000529967.6:n.2579C>T
ENST00000532220.2:n.3473C>T
ENST00000642611.2:n.5573C>T
ENST00000644057.2:n.816C>T
ENST00000645004.2:n.1739C>T
ENST00000682051.1:n.4402C>T
ENST00000682110.1:n.4455C>T
ENST00000682140.1:c.*26C>T	ENSP00000507829.1:n.*26C>T
ENST00000682185.1:n.5545C>T
ENST00000682204.1:c.*2378C>T	ENSP00000507094.1:n.*2378C>T
ENST00000682215.1:n.4822C>T
ENST00000682288.1:c.*2671C>T	ENSP00000507506.1:n.*2671C>T
ENST00000682442.1:n.4675C>T
ENST00000682528.1:n.4532C>T
ENST00000682673.1:n.4399C>T
ENST00000682805.1:n.4860C>T
ENST00000682965.1:c.*662C>T	ENSP00000508229.1:n.*662C>T
ENST00000683093.1:n.5539C>T
ENST00000683136.1:c.4123C>T	ENSP00000507768.1:p.Leu1375=
ENST00000683153.1:n.4497C>T
ENST00000683365.1:n.4557C>T
ENST00000683377.1:n.4455C>T
ENST00000683456.1:c.*1377C>T	ENSP00000508318.1:n.*1377C>T
ENST00000683522.1:n.4455C>T
ENST00000683562.1:c.*2409C>T	ENSP00000508265.1:n.*2409C>T
ENST00000683693.1:n.6020C>T
ENST00000683725.1:c.4240C>T	ENSP00000507496.1:p.Leu1414=
ENST00000684010.1:n.4450C>T
ENST00000684157.1:n.5440C>T
ENST00000684253.1:n.4358C>T
ENST00000684288.1:c.*2412C>T	ENSP00000507143.1:n.*2412C>T
ENST00000684313.1:n.3887C>T
ENST00000684332.1:n.4528C>T
ENST00000684371.1:n.4561C>T
ENST00000684404.1:n.5483C>T
ENST00000684442.1:n.4679C>T
ENST00000684555.1:c.*2452C>T	ENSP00000507705.1:n.*2452C>T
ENST00000684571.1:c.4081C>T	ENSP00000506935.1:p.Leu1361=
ENST00000684593.1:c.*3945C>T	ENSP00000507005.1:n.*3945C>T
ENST00000684711.1:c.*2636C>T	ENSP00000506841.1:n.*2636C>T
ENST00000302539.9:c.4243C>T	ENSP00000303960.4:p.Leu1415=
ENST00000389817.8:c.4240C>T MANE Select	ENSP00000374467.4:p.Leu1414=
ENST00000642271.1:c.4237C>T	ENSP00000493749.1:p.Leu1413=
ENST00000642579.1:c.2294C>T
ENST00000642611.1:n.5458C>T
ENST00000642902.1:c.4022C>T
ENST00000643260.1:c.4240C>T	ENSP00000494450.1:p.Leu1414=
ENST00000643562.1:c.*2362C>T	ENSP00000496124.1:n.*2362C>T
ENST00000643925.1:c.2880C>T
ENST00000644057.1:n.317C>T
ENST00000644484.1:c.*3626C>T	ENSP00000493558.1:n.*3626C>T
ENST00000644675.1:c.*2412C>T	ENSP00000494567.1:n.*2412C>T
ENST00000644757.1:c.*3202+587C>T	ENSP00000495085.1:n.*3202+587C>T
ENST00000644772.1:c.4306C>T	ENSP00000494321.1:p.Leu1436=
ENST00000645004.1:n.1933C>T
ENST00000645076.1:c.3439C>T
ENST00000645417.1:c.1428C>T
ENST00000645744.1:c.*3964-39C>T	ENSP00000494564.1:n.*3964-39C>T
ENST00000645760.1:c.4661C>T
ENST00000645884.1:c.*1523C>T	ENSP00000495516.1:n.*1523C>T
ENST00000646003.1:c.*2301-39C>T	ENSP00000495259.1:n.*2301-39C>T
ENST00000646207.1:c.*3077C>T	ENSP00000495025.1:n.*3077C>T
ENST00000646276.1:c.*3644C>T	ENSP00000496070.1:n.*3644C>T
ENST00000646592.1:c.3546C>T
ENST00000646902.1:c.4207C>T	ENSP00000494101.1:p.Leu1403=
ENST00000646993.1:c.*2782C>T	ENSP00000493720.1:n.*2782C>T
ENST00000647013.1:c.4246C>T	ENSP00000496741.1:n.4246C>T
ENST00000647015.1:c.3991C>T	ENSP00000495389.1:p.Leu1331=
ENST00000647086.1:c.*3826C>T	ENSP00000493677.1:n.*3826C>T
ENST00000647158.1:c.*2527C>T	ENSP00000495744.1:n.*2527C>T
ENST00000302539.8:c.4243C>T	ENSP00000303960.4:p.Leu1415=
ENST00000389817.7:c.4240C>T	ENSP00000374467.3:p.Leu1414=
ENST00000525022.1:n.239C>T
ENST00000526037.5:n.104C>T
ENST00000526168.5:c.67-39C>T
ENST00000531642.5:c.76C>T
NM_000352.4:c.4240C>T	NP_000343.2:p.Leu1414=
NM_001287174.1:c.4243C>T	NP_001274103.1:p.Leu1415=
XM_011520331.1:c.4240C>T	XP_011518633.1:p.Leu1414=
XM_011520332.1:c.4243C>T	XP_011518634.1:p.Leu1415=
XM_011520333.1:c.2740C>T	XP_011518635.1:p.Leu914=
XR_930890.1:n.4306C>T
NM_001351295.1:c.4306C>T	NP_001338224.1:p.Leu1436=
NM_001351296.1:c.4240C>T	NP_001338225.1:p.Leu1414=
NM_001351297.1:c.4237C>T	NP_001338226.1:p.Leu1413=
NR_147094.1:n.4535C>T
XM_017018197.2:c.4309C>T	XP_016873686.1:p.Leu1437=
XM_017018199.1:c.4306C>T	XP_016873688.1:p.Leu1436=
XM_017018201.2:c.4309C>T	XP_016873690.1:p.Leu1437=
XM_017018202.1:c.2806C>T	XP_016873691.1:p.Leu936=
XM_017018204.1:c.2197C>T	XP_016873693.1:p.Leu733=
XM_024448668.1:c.2608C>T	XP_024304436.1:p.Leu870=
XR_001747945.2:n.4381C>T
XR_001747946.2:n.4312C>T
XR_002957189.1:n.6095C>T
NM_000352.6:c.4240C>T MANE Select	NP_000343.2:p.Leu1414=
NM_001287174.2:c.4243C>T	NP_001274103.1:p.Leu1415=
NM_001351295.2:c.4306C>T	NP_001338224.1:p.Leu1436=
NM_001351296.2:c.4240C>T	NP_001338225.1:p.Leu1414=
NM_001351297.2:c.4237C>T	NP_001338226.1:p.Leu1413=
NR_147094.2:n.4535C>T
NM_001287174.3:c.4243C>T	NP_001274103.1:p.Leu1415=