Canonical Allele Identifier: CA379790189

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396921G>T , CM000673.2:g.17396921G>T	GRCh38
NC_000011.9:g.17418468G>T , CM000673.1:g.17418468G>T	GRCh37
NC_000011.8:g.17375044G>T	NCBI36
NG_008867.1:g.84982C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.4114C>A MANE Select	NP_000343.2:p.Gln1372Lys
ENST00000389817.8:c.4114C>A MANE Select	ENSP00000374467.4:p.Gln1372Lys
NM_000352.4:c.4114C>A	NP_000343.2:p.Gln1372Lys
NM_001287174.1:c.4117C>A	NP_001274103.1:p.Gln1373Lys
NM_001287174.2:c.4117C>A	NP_001274103.1:p.Gln1373Lys
NM_001287174.3:c.4117C>A	NP_001274103.1:p.Gln1373Lys
NM_001351295.1:c.4180C>A	NP_001338224.1:p.Gln1394Lys
NM_001351295.2:c.4180C>A	NP_001338224.1:p.Gln1394Lys
NM_001351296.1:c.4114C>A	NP_001338225.1:p.Gln1372Lys
NM_001351296.2:c.4114C>A	NP_001338225.1:p.Gln1372Lys
NM_001351297.1:c.4111C>A	NP_001338226.1:p.Gln1371Lys
NM_001351297.2:c.4111C>A	NP_001338226.1:p.Gln1371Lys
NR_147094.1:n.4409C>A
NR_147094.2:n.4409C>A
ENST00000302539.8:c.4117C>A	ENSP00000303960.4:p.Gln1373Lys
ENST00000302539.9:c.4117C>A	ENSP00000303960.4:p.Gln1373Lys
ENST00000389817.7:c.4114C>A	ENSP00000374467.3:p.Gln1372Lys
ENST00000524561.2:n.3715C>A
ENST00000527905.5:c.*1136C>A	ENSP00000431653.1:n.*1136C>A
ENST00000528374.1:c.596C>A
ENST00000528374.2:c.705C>A
ENST00000529967.6:n.2453C>A
ENST00000532220.1:n.588C>A
ENST00000532220.2:n.2362C>A
ENST00000642271.1:c.4111C>A	ENSP00000493749.1:p.Gln1371Lys
ENST00000642579.1:c.2168C>A
ENST00000642611.1:n.4214C>A
ENST00000642611.2:n.4329C>A
ENST00000642902.1:c.3896C>A
ENST00000643260.1:c.4114C>A	ENSP00000494450.1:p.Gln1372Lys
ENST00000643562.1:c.*2236C>A	ENSP00000496124.1:n.*2236C>A
ENST00000643925.1:c.2754C>A
ENST00000644057.1:n.191C>A
ENST00000644057.2:n.557C>A
ENST00000644484.1:c.*2515C>A	ENSP00000493558.1:n.*2515C>A
ENST00000644675.1:c.*2286C>A	ENSP00000494567.1:n.*2286C>A
ENST00000644757.1:c.*2545C>A	ENSP00000495085.1:n.*2545C>A
ENST00000644772.1:c.4180C>A	ENSP00000494321.1:p.Gln1394Lys
ENST00000645004.1:n.1769C>A
ENST00000645004.2:n.1613C>A
ENST00000645076.1:c.3313C>A
ENST00000645417.1:c.1302C>A
ENST00000645744.1:c.*2894C>A	ENSP00000494564.1:n.*2894C>A
ENST00000645760.1:c.4535C>A
ENST00000645884.1:c.*1397C>A	ENSP00000495516.1:n.*1397C>A
ENST00000646003.1:c.*2216C>A	ENSP00000495259.1:n.*2216C>A
ENST00000646207.1:c.*2951C>A	ENSP00000495025.1:n.*2951C>A
ENST00000646276.1:c.*2533C>A	ENSP00000496070.1:n.*2533C>A
ENST00000646592.1:c.3420C>A
ENST00000646902.1:c.4081C>A	ENSP00000494101.1:p.Gln1361Lys
ENST00000646993.1:c.*2656C>A	ENSP00000493720.1:n.*2656C>A
ENST00000647013.1:c.4120C>A	ENSP00000496741.1:n.4120C>A
ENST00000647015.1:c.3865C>A	ENSP00000495389.1:p.Gln1289Lys
ENST00000647086.1:c.*3700C>A	ENSP00000493677.1:n.*3700C>A
ENST00000647158.1:c.*2401C>A	ENSP00000495744.1:n.*2401C>A
ENST00000682051.1:n.4276C>A
ENST00000682110.1:n.4329C>A
ENST00000682140.1:c.3985+272C>A	ENSP00000507829.1:n.3985+272C>A
ENST00000682185.1:n.5419C>A
ENST00000682204.1:c.*2252C>A	ENSP00000507094.1:n.*2252C>A
ENST00000682215.1:n.4696C>A
ENST00000682288.1:c.*2545C>A	ENSP00000507506.1:n.*2545C>A
ENST00000682442.1:n.4549C>A
ENST00000682528.1:n.4406C>A
ENST00000682673.1:n.4273C>A
ENST00000682805.1:n.4696C>A
ENST00000682965.1:c.*536C>A	ENSP00000508229.1:n.*536C>A
ENST00000683093.1:n.4428C>A
ENST00000683136.1:c.3997C>A	ENSP00000507768.1:p.Gln1333Lys
ENST00000683153.1:n.4371C>A
ENST00000683365.1:n.4431C>A
ENST00000683377.1:n.4329C>A
ENST00000683456.1:c.*1251C>A	ENSP00000508318.1:n.*1251C>A
ENST00000683522.1:n.4329C>A
ENST00000683562.1:c.*2283C>A	ENSP00000508265.1:n.*2283C>A
ENST00000683693.1:n.4776C>A
ENST00000683725.1:c.4114C>A	ENSP00000507496.1:p.Gln1372Lys
ENST00000684010.1:n.4324C>A
ENST00000684157.1:n.4329C>A
ENST00000684253.1:n.4232C>A
ENST00000684288.1:c.*2286C>A	ENSP00000507143.1:n.*2286C>A
ENST00000684313.1:n.3761C>A
ENST00000684332.1:n.4402C>A
ENST00000684371.1:n.4435C>A
ENST00000684404.1:n.4372C>A
ENST00000684442.1:n.4553C>A
ENST00000684555.1:c.*2326C>A	ENSP00000507705.1:n.*2326C>A
ENST00000684571.1:c.3955C>A	ENSP00000506935.1:p.Gln1319Lys
ENST00000684593.1:c.*3819C>A	ENSP00000507005.1:n.*3819C>A
ENST00000684711.1:c.*2510C>A	ENSP00000506841.1:n.*2510C>A
XM_011520331.1:c.4114C>A	XP_011518633.1:p.Gln1372Lys
XM_011520332.1:c.4117C>A	XP_011518634.1:p.Gln1373Lys
XM_011520333.1:c.2614C>A	XP_011518635.1:p.Gln872Lys
XM_017018197.2:c.4183C>A	XP_016873686.1:p.Gln1395Lys
XM_017018199.1:c.4180C>A	XP_016873688.1:p.Gln1394Lys
XM_017018201.2:c.4183C>A	XP_016873690.1:p.Gln1395Lys
XM_017018202.1:c.2680C>A	XP_016873691.1:p.Gln894Lys
XM_017018204.1:c.2071C>A	XP_016873693.1:p.Gln691Lys
XM_024448668.1:c.2482C>A	XP_024304436.1:p.Gln828Lys
XR_001747945.2:n.4255C>A
XR_001747946.2:n.4186C>A
XR_002957189.1:n.4851C>A
XR_930890.1:n.4180C>A