Canonical Allele Identifier: CA379786801

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395673-T-A
• MyVariant Identifiers: chr11:g.17417220T>A (hg19) ; chr11:g.17395673T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395673T>A , CM000673.2:g.17395673T>A	GRCh38
NC_000011.9:g.17417220T>A , CM000673.1:g.17417220T>A	GRCh37
NC_000011.8:g.17373796T>A	NCBI36
NG_008867.1:g.86230A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3845A>T
ENST00000528374.2:c.835A>T
ENST00000529967.6:n.2583A>T
ENST00000532220.2:n.3477A>T
ENST00000642611.2:n.5577A>T
ENST00000644057.2:n.820A>T
ENST00000645004.2:n.1743A>T
ENST00000682051.1:n.4406A>T
ENST00000682110.1:n.4459A>T
ENST00000682140.1:c.*30A>T	ENSP00000507829.1:n.*30A>T
ENST00000682185.1:n.5549A>T
ENST00000682204.1:c.*2382A>T	ENSP00000507094.1:n.*2382A>T
ENST00000682215.1:n.4826A>T
ENST00000682288.1:c.*2675A>T	ENSP00000507506.1:n.*2675A>T
ENST00000682442.1:n.4679A>T
ENST00000682528.1:n.4536A>T
ENST00000682673.1:n.4403A>T
ENST00000682805.1:n.4864A>T
ENST00000682965.1:c.*666A>T	ENSP00000508229.1:n.*666A>T
ENST00000683093.1:n.5543A>T
ENST00000683136.1:c.4127A>T	ENSP00000507768.1:p.His1376Leu
ENST00000683153.1:n.4501A>T
ENST00000683365.1:n.4561A>T
ENST00000683377.1:n.4459A>T
ENST00000683456.1:c.*1381A>T	ENSP00000508318.1:n.*1381A>T
ENST00000683522.1:n.4459A>T
ENST00000683562.1:c.*2413A>T	ENSP00000508265.1:n.*2413A>T
ENST00000683693.1:n.6024A>T
ENST00000683725.1:c.4244A>T	ENSP00000507496.1:p.His1415Leu
ENST00000684010.1:n.4454A>T
ENST00000684157.1:n.5444A>T
ENST00000684253.1:n.4362A>T
ENST00000684288.1:c.*2416A>T	ENSP00000507143.1:n.*2416A>T
ENST00000684313.1:n.3891A>T
ENST00000684332.1:n.4532A>T
ENST00000684371.1:n.4565A>T
ENST00000684404.1:n.5487A>T
ENST00000684442.1:n.4683A>T
ENST00000684555.1:c.*2456A>T	ENSP00000507705.1:n.*2456A>T
ENST00000684571.1:c.4085A>T	ENSP00000506935.1:p.His1362Leu
ENST00000684593.1:c.*3949A>T	ENSP00000507005.1:n.*3949A>T
ENST00000684711.1:c.*2640A>T	ENSP00000506841.1:n.*2640A>T
ENST00000302539.9:c.4247A>T	ENSP00000303960.4:p.His1416Leu
ENST00000389817.8:c.4244A>T MANE Select	ENSP00000374467.4:p.His1415Leu
ENST00000642271.1:c.4241A>T	ENSP00000493749.1:p.His1414Leu
ENST00000642579.1:c.2298A>T
ENST00000642611.1:n.5462A>T
ENST00000642902.1:c.4026A>T
ENST00000643260.1:c.4244A>T	ENSP00000494450.1:p.His1415Leu
ENST00000643562.1:c.*2366A>T	ENSP00000496124.1:n.*2366A>T
ENST00000643925.1:c.2884A>T
ENST00000644057.1:n.321A>T
ENST00000644484.1:c.*3630A>T	ENSP00000493558.1:n.*3630A>T
ENST00000644675.1:c.*2416A>T	ENSP00000494567.1:n.*2416A>T
ENST00000644757.1:c.*3202+591A>T	ENSP00000495085.1:n.*3202+591A>T
ENST00000644772.1:c.4310A>T	ENSP00000494321.1:p.His1437Leu
ENST00000645004.1:n.1937A>T
ENST00000645076.1:c.3443A>T
ENST00000645417.1:c.1432A>T
ENST00000645744.1:c.*3964-35A>T	ENSP00000494564.1:n.*3964-35A>T
ENST00000645760.1:c.4665A>T
ENST00000645884.1:c.*1527A>T	ENSP00000495516.1:n.*1527A>T
ENST00000646003.1:c.*2301-35A>T	ENSP00000495259.1:n.*2301-35A>T
ENST00000646207.1:c.*3081A>T	ENSP00000495025.1:n.*3081A>T
ENST00000646276.1:c.*3648A>T	ENSP00000496070.1:n.*3648A>T
ENST00000646592.1:c.3550A>T
ENST00000646902.1:c.4211A>T	ENSP00000494101.1:p.His1404Leu
ENST00000646993.1:c.*2786A>T	ENSP00000493720.1:n.*2786A>T
ENST00000647013.1:c.4250A>T	ENSP00000496741.1:n.4250A>T
ENST00000647015.1:c.3995A>T	ENSP00000495389.1:p.His1332Leu
ENST00000647086.1:c.*3830A>T	ENSP00000493677.1:n.*3830A>T
ENST00000647158.1:c.*2531A>T	ENSP00000495744.1:n.*2531A>T
ENST00000302539.8:c.4247A>T	ENSP00000303960.4:p.His1416Leu
ENST00000389817.7:c.4244A>T	ENSP00000374467.3:p.His1415Leu
ENST00000525022.1:n.243A>T
ENST00000526037.5:n.108A>T
ENST00000526168.5:c.67-35A>T
ENST00000531642.5:c.80A>T
NM_000352.4:c.4244A>T	NP_000343.2:p.His1415Leu
NM_001287174.1:c.4247A>T	NP_001274103.1:p.His1416Leu
XM_011520331.1:c.4244A>T	XP_011518633.1:p.His1415Leu
XM_011520332.1:c.4247A>T	XP_011518634.1:p.His1416Leu
XM_011520333.1:c.2744A>T	XP_011518635.1:p.His915Leu
XR_930890.1:n.4310A>T
NM_001351295.1:c.4310A>T	NP_001338224.1:p.His1437Leu
NM_001351296.1:c.4244A>T	NP_001338225.1:p.His1415Leu
NM_001351297.1:c.4241A>T	NP_001338226.1:p.His1414Leu
NR_147094.1:n.4539A>T
XM_017018197.2:c.4313A>T	XP_016873686.1:p.His1438Leu
XM_017018199.1:c.4310A>T	XP_016873688.1:p.His1437Leu
XM_017018201.2:c.4313A>T	XP_016873690.1:p.His1438Leu
XM_017018202.1:c.2810A>T	XP_016873691.1:p.His937Leu
XM_017018204.1:c.2201A>T	XP_016873693.1:p.His734Leu
XM_024448668.1:c.2612A>T	XP_024304436.1:p.His871Leu
XR_001747945.2:n.4385A>T
XR_001747946.2:n.4316A>T
XR_002957189.1:n.6099A>T
NM_000352.6:c.4244A>T MANE Select	NP_000343.2:p.His1415Leu
NM_001287174.2:c.4247A>T	NP_001274103.1:p.His1416Leu
NM_001351295.2:c.4310A>T	NP_001338224.1:p.His1437Leu
NM_001351296.2:c.4244A>T	NP_001338225.1:p.His1415Leu
NM_001351297.2:c.4241A>T	NP_001338226.1:p.His1414Leu
NR_147094.2:n.4539A>T
NM_001287174.3:c.4247A>T	NP_001274103.1:p.His1416Leu