Canonical Allele Identifier: CA379786686

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395661-G-T
• MyVariant Identifiers: chr11:g.17417208G>T (hg19) ; chr11:g.17395661G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395661G>T , CM000673.2:g.17395661G>T	GRCh38
NC_000011.9:g.17417208G>T , CM000673.1:g.17417208G>T	GRCh37
NC_000011.8:g.17373784G>T	NCBI36
NG_008867.1:g.86242C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3857C>A
ENST00000528374.2:c.847C>A
ENST00000529967.6:n.2595C>A
ENST00000532220.2:n.3489C>A
ENST00000642611.2:n.5589C>A
ENST00000644057.2:n.832C>A
ENST00000645004.2:n.1755C>A
ENST00000682051.1:n.4418C>A
ENST00000682110.1:n.4471C>A
ENST00000682140.1:c.*42C>A	ENSP00000507829.1:n.*42C>A
ENST00000682185.1:n.5561C>A
ENST00000682204.1:c.*2394C>A	ENSP00000507094.1:n.*2394C>A
ENST00000682215.1:n.4838C>A
ENST00000682288.1:c.*2687C>A	ENSP00000507506.1:n.*2687C>A
ENST00000682442.1:n.4691C>A
ENST00000682528.1:n.4548C>A
ENST00000682673.1:n.4415C>A
ENST00000682805.1:n.4876C>A
ENST00000682965.1:c.*678C>A	ENSP00000508229.1:n.*678C>A
ENST00000683093.1:n.5555C>A
ENST00000683136.1:c.4139C>A	ENSP00000507768.1:p.Ser1380Ter
ENST00000683153.1:n.4513C>A
ENST00000683365.1:n.4573C>A
ENST00000683377.1:n.4471C>A
ENST00000683456.1:c.*1393C>A	ENSP00000508318.1:n.*1393C>A
ENST00000683522.1:n.4471C>A
ENST00000683562.1:c.*2425C>A	ENSP00000508265.1:n.*2425C>A
ENST00000683693.1:n.6036C>A
ENST00000683725.1:c.4256C>A	ENSP00000507496.1:p.Ser1419Ter
ENST00000684010.1:n.4466C>A
ENST00000684157.1:n.5456C>A
ENST00000684253.1:n.4374C>A
ENST00000684288.1:c.*2428C>A	ENSP00000507143.1:n.*2428C>A
ENST00000684313.1:n.3903C>A
ENST00000684332.1:n.4544C>A
ENST00000684371.1:n.4577C>A
ENST00000684404.1:n.5499C>A
ENST00000684442.1:n.4695C>A
ENST00000684555.1:c.*2468C>A	ENSP00000507705.1:n.*2468C>A
ENST00000684571.1:c.4097C>A	ENSP00000506935.1:p.Ser1366Ter
ENST00000684593.1:c.*3961C>A	ENSP00000507005.1:n.*3961C>A
ENST00000684711.1:c.*2652C>A	ENSP00000506841.1:n.*2652C>A
ENST00000302539.9:c.4259C>A	ENSP00000303960.4:p.Ser1420Ter
ENST00000389817.8:c.4256C>A MANE Select	ENSP00000374467.4:p.Ser1419Ter
ENST00000642271.1:c.4253C>A	ENSP00000493749.1:p.Ser1418Ter
ENST00000642579.1:c.2310C>A
ENST00000642611.1:n.5474C>A
ENST00000642902.1:c.4038C>A
ENST00000643260.1:c.4256C>A	ENSP00000494450.1:p.Ser1419Ter
ENST00000643562.1:c.*2378C>A	ENSP00000496124.1:n.*2378C>A
ENST00000643925.1:c.2896C>A
ENST00000644057.1:n.333C>A
ENST00000644484.1:c.*3642C>A	ENSP00000493558.1:n.*3642C>A
ENST00000644675.1:c.*2428C>A	ENSP00000494567.1:n.*2428C>A
ENST00000644757.1:c.*3202+603C>A	ENSP00000495085.1:n.*3202+603C>A
ENST00000644772.1:c.4322C>A	ENSP00000494321.1:p.Ser1441Ter
ENST00000645004.1:n.1949C>A
ENST00000645076.1:c.3455C>A
ENST00000645417.1:c.1444C>A
ENST00000645744.1:c.*3964-23C>A	ENSP00000494564.1:n.*3964-23C>A
ENST00000645760.1:c.4677C>A
ENST00000645884.1:c.*1539C>A	ENSP00000495516.1:n.*1539C>A
ENST00000646003.1:c.*2301-23C>A	ENSP00000495259.1:n.*2301-23C>A
ENST00000646207.1:c.*3093C>A	ENSP00000495025.1:n.*3093C>A
ENST00000646276.1:c.*3660C>A	ENSP00000496070.1:n.*3660C>A
ENST00000646592.1:c.3562C>A
ENST00000646902.1:c.4223C>A	ENSP00000494101.1:p.Ser1408Ter
ENST00000646993.1:c.*2798C>A	ENSP00000493720.1:n.*2798C>A
ENST00000647013.1:c.4262C>A	ENSP00000496741.1:n.4262C>A
ENST00000647015.1:c.4007C>A	ENSP00000495389.1:p.Ser1336Ter
ENST00000647086.1:c.*3842C>A	ENSP00000493677.1:n.*3842C>A
ENST00000647158.1:c.*2543C>A	ENSP00000495744.1:n.*2543C>A
ENST00000302539.8:c.4259C>A	ENSP00000303960.4:p.Ser1420Ter
ENST00000389817.7:c.4256C>A	ENSP00000374467.3:p.Ser1419Ter
ENST00000525022.1:n.255C>A
ENST00000526037.5:n.120C>A
ENST00000526168.5:c.67-23C>A
ENST00000531642.5:c.92C>A
NM_000352.4:c.4256C>A	NP_000343.2:p.Ser1419Ter
NM_001287174.1:c.4259C>A	NP_001274103.1:p.Ser1420Ter
XM_011520331.1:c.4256C>A	XP_011518633.1:p.Ser1419Ter
XM_011520332.1:c.4259C>A	XP_011518634.1:p.Ser1420Ter
XM_011520333.1:c.2756C>A	XP_011518635.1:p.Ser919Ter
XR_930890.1:n.4322C>A
NM_001351295.1:c.4322C>A	NP_001338224.1:p.Ser1441Ter
NM_001351296.1:c.4256C>A	NP_001338225.1:p.Ser1419Ter
NM_001351297.1:c.4253C>A	NP_001338226.1:p.Ser1418Ter
NR_147094.1:n.4551C>A
XM_017018197.2:c.4325C>A	XP_016873686.1:p.Ser1442Ter
XM_017018199.1:c.4322C>A	XP_016873688.1:p.Ser1441Ter
XM_017018201.2:c.4325C>A	XP_016873690.1:p.Ser1442Ter
XM_017018202.1:c.2822C>A	XP_016873691.1:p.Ser941Ter
XM_017018204.1:c.2213C>A	XP_016873693.1:p.Ser738Ter
XM_024448668.1:c.2624C>A	XP_024304436.1:p.Ser875Ter
XR_001747945.2:n.4397C>A
XR_001747946.2:n.4328C>A
XR_002957189.1:n.6111C>A
NM_000352.6:c.4256C>A MANE Select	NP_000343.2:p.Ser1419Ter
NM_001287174.2:c.4259C>A	NP_001274103.1:p.Ser1420Ter
NM_001351295.2:c.4322C>A	NP_001338224.1:p.Ser1441Ter
NM_001351296.2:c.4256C>A	NP_001338225.1:p.Ser1419Ter
NM_001351297.2:c.4253C>A	NP_001338226.1:p.Ser1418Ter
NR_147094.2:n.4551C>A
NM_001287174.3:c.4259C>A	NP_001274103.1:p.Ser1420Ter