Canonical Allele Identifier: CA473298288

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417427G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395880G>A , CM000673.2:g.17395880G>A	GRCh38
NC_000011.9:g.17417427G>A , CM000673.1:g.17417427G>A	GRCh37
NC_000011.8:g.17374003G>A	NCBI36
NG_008867.1:g.86023C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3771C>T
ENST00000528374.2:c.761C>T
ENST00000529967.6:n.2509C>T
ENST00000532220.2:n.3403C>T
ENST00000642611.2:n.5370C>T
ENST00000644057.2:n.613C>T
ENST00000645004.2:n.1669C>T
ENST00000682051.1:n.4332C>T
ENST00000682110.1:n.4385C>T
ENST00000682140.1:c.4036C>T	ENSP00000507829.1:p.Leu1346Phe
ENST00000682185.1:n.5475C>T
ENST00000682204.1:c.*2308C>T	ENSP00000507094.1:n.*2308C>T
ENST00000682215.1:n.4752C>T
ENST00000682288.1:c.*2601C>T	ENSP00000507506.1:n.*2601C>T
ENST00000682442.1:n.4605C>T
ENST00000682528.1:n.4462C>T
ENST00000682673.1:n.4329C>T
ENST00000682805.1:n.4790C>T
ENST00000682965.1:c.*592C>T	ENSP00000508229.1:n.*592C>T
ENST00000683093.1:n.5469C>T
ENST00000683136.1:c.4053C>T	ENSP00000507768.1:p.Ala1351=
ENST00000683153.1:n.4427C>T
ENST00000683365.1:n.4487C>T
ENST00000683377.1:n.4385C>T
ENST00000683456.1:c.*1307C>T	ENSP00000508318.1:n.*1307C>T
ENST00000683522.1:n.4385C>T
ENST00000683562.1:c.*2339C>T	ENSP00000508265.1:n.*2339C>T
ENST00000683693.1:n.5817C>T
ENST00000683725.1:c.4170C>T	ENSP00000507496.1:p.Ala1390=
ENST00000684010.1:n.4380C>T
ENST00000684157.1:n.5370C>T
ENST00000684253.1:n.4288C>T
ENST00000684288.1:c.*2342C>T	ENSP00000507143.1:n.*2342C>T
ENST00000684313.1:n.3817C>T
ENST00000684332.1:n.4458C>T
ENST00000684371.1:n.4491C>T
ENST00000684404.1:n.5413C>T
ENST00000684442.1:n.4609C>T
ENST00000684555.1:c.*2382C>T	ENSP00000507705.1:n.*2382C>T
ENST00000684571.1:c.4011C>T	ENSP00000506935.1:p.Ala1337=
ENST00000684593.1:c.*3875C>T	ENSP00000507005.1:n.*3875C>T
ENST00000684711.1:c.*2566C>T	ENSP00000506841.1:n.*2566C>T
ENST00000302539.9:c.4173C>T	ENSP00000303960.4:p.Ala1391=
ENST00000389817.8:c.4170C>T MANE Select	ENSP00000374467.4:p.Ala1390=
ENST00000642271.1:c.4167C>T	ENSP00000493749.1:p.Ala1389=
ENST00000642579.1:c.2224C>T
ENST00000642611.1:n.5255C>T
ENST00000642902.1:c.3952C>T
ENST00000643260.1:c.4170C>T	ENSP00000494450.1:p.Ala1390=
ENST00000643562.1:c.*2292C>T	ENSP00000496124.1:n.*2292C>T
ENST00000643925.1:c.2810C>T
ENST00000644057.1:n.247C>T
ENST00000644484.1:c.*3556C>T	ENSP00000493558.1:n.*3556C>T
ENST00000644675.1:c.*2342C>T	ENSP00000494567.1:n.*2342C>T
ENST00000644757.1:c.*3202+384C>T	ENSP00000495085.1:n.*3202+384C>T
ENST00000644772.1:c.4236C>T	ENSP00000494321.1:p.Ala1412=
ENST00000645004.1:n.1863C>T
ENST00000645076.1:c.3369C>T
ENST00000645417.1:c.1358C>T
ENST00000645744.1:c.*3935C>T	ENSP00000494564.1:n.*3935C>T
ENST00000645760.1:c.4591C>T
ENST00000645884.1:c.*1453C>T	ENSP00000495516.1:n.*1453C>T
ENST00000646003.1:c.*2272C>T	ENSP00000495259.1:n.*2272C>T
ENST00000646207.1:c.*3007C>T	ENSP00000495025.1:n.*3007C>T
ENST00000646276.1:c.*3574C>T	ENSP00000496070.1:n.*3574C>T
ENST00000646592.1:c.3476C>T
ENST00000646902.1:c.4137C>T	ENSP00000494101.1:p.Ala1379=
ENST00000646993.1:c.*2712C>T	ENSP00000493720.1:n.*2712C>T
ENST00000647013.1:c.4176C>T	ENSP00000496741.1:n.4176C>T
ENST00000647015.1:c.3921C>T	ENSP00000495389.1:p.Ala1307=
ENST00000647086.1:c.*3756C>T	ENSP00000493677.1:n.*3756C>T
ENST00000647158.1:c.*2457C>T	ENSP00000495744.1:n.*2457C>T
ENST00000302539.8:c.4173C>T	ENSP00000303960.4:p.Ala1391=
ENST00000389817.7:c.4170C>T	ENSP00000374467.3:p.Ala1390=
ENST00000525022.1:n.36C>T
ENST00000526168.5:c.38C>T
ENST00000531642.5:c.6C>T
NM_000352.4:c.4170C>T	NP_000343.2:p.Ala1390=
NM_001287174.1:c.4173C>T	NP_001274103.1:p.Ala1391=
XM_011520331.1:c.4170C>T	XP_011518633.1:p.Ala1390=
XM_011520332.1:c.4173C>T	XP_011518634.1:p.Ala1391=
XM_011520333.1:c.2670C>T	XP_011518635.1:p.Ala890=
XR_930890.1:n.4236C>T
NM_001351295.1:c.4236C>T	NP_001338224.1:p.Ala1412=
NM_001351296.1:c.4170C>T	NP_001338225.1:p.Ala1390=
NM_001351297.1:c.4167C>T	NP_001338226.1:p.Ala1389=
NR_147094.1:n.4465C>T
XM_017018197.2:c.4239C>T	XP_016873686.1:p.Ala1413=
XM_017018199.1:c.4236C>T	XP_016873688.1:p.Ala1412=
XM_017018201.2:c.4239C>T	XP_016873690.1:p.Ala1413=
XM_017018202.1:c.2736C>T	XP_016873691.1:p.Ala912=
XM_017018204.1:c.2127C>T	XP_016873693.1:p.Ala709=
XM_024448668.1:c.2538C>T	XP_024304436.1:p.Ala846=
XR_001747945.2:n.4311C>T
XR_001747946.2:n.4242C>T
XR_002957189.1:n.5892C>T
NM_000352.6:c.4170C>T MANE Select	NP_000343.2:p.Ala1390=
NM_001287174.2:c.4173C>T	NP_001274103.1:p.Ala1391=
NM_001351295.2:c.4236C>T	NP_001338224.1:p.Ala1412=
NM_001351296.2:c.4170C>T	NP_001338225.1:p.Ala1390=
NM_001351297.2:c.4167C>T	NP_001338226.1:p.Ala1389=
NR_147094.2:n.4465C>T
NM_001287174.3:c.4173C>T	NP_001274103.1:p.Ala1391=