Canonical Allele Identifier: CA473298230

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395657-G-A
• MyVariant Identifiers: chr11:g.17417204G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395657G>A , CM000673.2:g.17395657G>A	GRCh38
NC_000011.9:g.17417204G>A , CM000673.1:g.17417204G>A	GRCh37
NC_000011.8:g.17373780G>A	NCBI36
NG_008867.1:g.86246C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3861C>T
ENST00000528374.2:c.851C>T
ENST00000529967.6:n.2599C>T
ENST00000532220.2:n.3493C>T
ENST00000642611.2:n.5593C>T
ENST00000644057.2:n.836C>T
ENST00000645004.2:n.1759C>T
ENST00000682051.1:n.4422C>T
ENST00000682110.1:n.4475C>T
ENST00000682140.1:c.*46C>T	ENSP00000507829.1:n.*46C>T
ENST00000682185.1:n.5565C>T
ENST00000682204.1:c.*2398C>T	ENSP00000507094.1:n.*2398C>T
ENST00000682215.1:n.4842C>T
ENST00000682288.1:c.*2691C>T	ENSP00000507506.1:n.*2691C>T
ENST00000682442.1:n.4695C>T
ENST00000682528.1:n.4552C>T
ENST00000682673.1:n.4419C>T
ENST00000682805.1:n.4880C>T
ENST00000682965.1:c.*682C>T	ENSP00000508229.1:n.*682C>T
ENST00000683093.1:n.5559C>T
ENST00000683136.1:c.4143C>T	ENSP00000507768.1:p.Arg1381=
ENST00000683153.1:n.4517C>T
ENST00000683365.1:n.4577C>T
ENST00000683377.1:n.4475C>T
ENST00000683456.1:c.*1397C>T	ENSP00000508318.1:n.*1397C>T
ENST00000683522.1:n.4475C>T
ENST00000683562.1:c.*2429C>T	ENSP00000508265.1:n.*2429C>T
ENST00000683693.1:n.6040C>T
ENST00000683725.1:c.4260C>T	ENSP00000507496.1:p.Arg1420=
ENST00000684010.1:n.4470C>T
ENST00000684157.1:n.5460C>T
ENST00000684253.1:n.4378C>T
ENST00000684288.1:c.*2432C>T	ENSP00000507143.1:n.*2432C>T
ENST00000684313.1:n.3907C>T
ENST00000684332.1:n.4548C>T
ENST00000684371.1:n.4581C>T
ENST00000684404.1:n.5503C>T
ENST00000684442.1:n.4699C>T
ENST00000684555.1:c.*2472C>T	ENSP00000507705.1:n.*2472C>T
ENST00000684571.1:c.4101C>T	ENSP00000506935.1:p.Arg1367=
ENST00000684593.1:c.*3965C>T	ENSP00000507005.1:n.*3965C>T
ENST00000684711.1:c.*2656C>T	ENSP00000506841.1:n.*2656C>T
ENST00000302539.9:c.4263C>T	ENSP00000303960.4:p.Arg1421=
ENST00000389817.8:c.4260C>T MANE Select	ENSP00000374467.4:p.Arg1420=
ENST00000642271.1:c.4257C>T	ENSP00000493749.1:p.Arg1419=
ENST00000642579.1:c.2314C>T
ENST00000642611.1:n.5478C>T
ENST00000642902.1:c.4042C>T
ENST00000643260.1:c.4260C>T	ENSP00000494450.1:p.Arg1420=
ENST00000643562.1:c.*2382C>T	ENSP00000496124.1:n.*2382C>T
ENST00000643925.1:c.2900C>T
ENST00000644057.1:n.337C>T
ENST00000644484.1:c.*3646C>T	ENSP00000493558.1:n.*3646C>T
ENST00000644675.1:c.*2432C>T	ENSP00000494567.1:n.*2432C>T
ENST00000644757.1:c.*3202+607C>T	ENSP00000495085.1:n.*3202+607C>T
ENST00000644772.1:c.4326C>T	ENSP00000494321.1:p.Arg1442=
ENST00000645004.1:n.1953C>T
ENST00000645076.1:c.3459C>T
ENST00000645417.1:c.1448C>T
ENST00000645744.1:c.*3964-19C>T	ENSP00000494564.1:n.*3964-19C>T
ENST00000645760.1:c.4681C>T
ENST00000645884.1:c.*1543C>T	ENSP00000495516.1:n.*1543C>T
ENST00000646003.1:c.*2301-19C>T	ENSP00000495259.1:n.*2301-19C>T
ENST00000646207.1:c.*3097C>T	ENSP00000495025.1:n.*3097C>T
ENST00000646276.1:c.*3664C>T	ENSP00000496070.1:n.*3664C>T
ENST00000646592.1:c.3566C>T
ENST00000646902.1:c.4227C>T	ENSP00000494101.1:p.Arg1409=
ENST00000646993.1:c.*2802C>T	ENSP00000493720.1:n.*2802C>T
ENST00000647013.1:c.4266C>T	ENSP00000496741.1:n.4266C>T
ENST00000647015.1:c.4011C>T	ENSP00000495389.1:p.Arg1337=
ENST00000647086.1:c.*3846C>T	ENSP00000493677.1:n.*3846C>T
ENST00000647158.1:c.*2547C>T	ENSP00000495744.1:n.*2547C>T
ENST00000302539.8:c.4263C>T	ENSP00000303960.4:p.Arg1421=
ENST00000389817.7:c.4260C>T	ENSP00000374467.3:p.Arg1420=
ENST00000525022.1:n.259C>T
ENST00000526037.5:n.124C>T
ENST00000526168.5:c.67-19C>T
ENST00000531642.5:c.96C>T
NM_000352.4:c.4260C>T	NP_000343.2:p.Arg1420=
NM_001287174.1:c.4263C>T	NP_001274103.1:p.Arg1421=
XM_011520331.1:c.4260C>T	XP_011518633.1:p.Arg1420=
XM_011520332.1:c.4263C>T	XP_011518634.1:p.Arg1421=
XM_011520333.1:c.2760C>T	XP_011518635.1:p.Arg920=
XR_930890.1:n.4326C>T
NM_001351295.1:c.4326C>T	NP_001338224.1:p.Arg1442=
NM_001351296.1:c.4260C>T	NP_001338225.1:p.Arg1420=
NM_001351297.1:c.4257C>T	NP_001338226.1:p.Arg1419=
NR_147094.1:n.4555C>T
XM_017018197.2:c.4329C>T	XP_016873686.1:p.Arg1443=
XM_017018199.1:c.4326C>T	XP_016873688.1:p.Arg1442=
XM_017018201.2:c.4329C>T	XP_016873690.1:p.Arg1443=
XM_017018202.1:c.2826C>T	XP_016873691.1:p.Arg942=
XM_017018204.1:c.2217C>T	XP_016873693.1:p.Arg739=
XM_024448668.1:c.2628C>T	XP_024304436.1:p.Arg876=
XR_001747945.2:n.4401C>T
XR_001747946.2:n.4332C>T
XR_002957189.1:n.6115C>T
NM_000352.6:c.4260C>T MANE Select	NP_000343.2:p.Arg1420=
NM_001287174.2:c.4263C>T	NP_001274103.1:p.Arg1421=
NM_001351295.2:c.4326C>T	NP_001338224.1:p.Arg1442=
NM_001351296.2:c.4260C>T	NP_001338225.1:p.Arg1420=
NM_001351297.2:c.4257C>T	NP_001338226.1:p.Arg1419=
NR_147094.2:n.4555C>T
NM_001287174.3:c.4263C>T	NP_001274103.1:p.Arg1421=