Canonical Allele Identifier: CA379782144

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17393743-T-G
• MyVariant Identifiers: chr11:g.17415290T>G (hg19) ; chr11:g.17393743T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393743T>G , CM000673.2:g.17393743T>G	GRCh38
NC_000011.9:g.17415290T>G , CM000673.1:g.17415290T>G	GRCh37
NC_000011.8:g.17371866T>G	NCBI36
NG_008867.1:g.88160A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4163A>C
ENST00000526037.6:n.497A>C
ENST00000528374.2:c.1153A>C
ENST00000529967.6:n.2901A>C
ENST00000532220.2:n.3795A>C
ENST00000642611.2:n.5895A>C
ENST00000644057.2:n.1138A>C
ENST00000645004.2:n.2061A>C
ENST00000682051.1:n.4724A>C
ENST00000682110.1:n.4777A>C
ENST00000682140.1:c.*348A>C	ENSP00000507829.1:n.*348A>C
ENST00000682185.1:n.5867A>C
ENST00000682204.1:c.*2700A>C	ENSP00000507094.1:n.*2700A>C
ENST00000682215.1:n.5144A>C
ENST00000682288.1:c.*2993A>C	ENSP00000507506.1:n.*2993A>C
ENST00000682442.1:n.4997A>C
ENST00000682528.1:n.4854A>C
ENST00000682673.1:n.4721A>C
ENST00000682805.1:n.5182A>C
ENST00000682965.1:c.*984A>C	ENSP00000508229.1:n.*984A>C
ENST00000683093.1:n.5757A>C
ENST00000683136.1:c.4445A>C	ENSP00000507768.1:p.Lys1482Thr
ENST00000683153.1:n.4819A>C
ENST00000683365.1:n.4879A>C
ENST00000683377.1:n.4673A>C
ENST00000683456.1:c.*1699A>C	ENSP00000508318.1:n.*1699A>C
ENST00000683522.1:n.4859A>C
ENST00000683562.1:c.*2627A>C	ENSP00000508265.1:n.*2627A>C
ENST00000683693.1:n.6238A>C
ENST00000683725.1:c.*27A>C	ENSP00000507496.1:n.*27A>C
ENST00000684010.1:n.4772A>C
ENST00000684014.1:n.749A>C
ENST00000684157.1:n.5762A>C
ENST00000684253.1:n.4680A>C
ENST00000684288.1:c.*2734A>C	ENSP00000507143.1:n.*2734A>C
ENST00000684313.1:n.4209A>C
ENST00000684332.1:n.4850A>C
ENST00000684371.1:n.4883A>C
ENST00000684404.1:n.5805A>C
ENST00000684442.1:n.5001A>C
ENST00000684555.1:c.*2774A>C	ENSP00000507705.1:n.*2774A>C
ENST00000684571.1:c.4403A>C	ENSP00000506935.1:p.Lys1468Thr
ENST00000684593.1:c.*4267A>C	ENSP00000507005.1:n.*4267A>C
ENST00000684711.1:c.*2958A>C	ENSP00000506841.1:n.*2958A>C
ENST00000302539.9:c.4565A>C	ENSP00000303960.4:p.Lys1522Thr
ENST00000389817.8:c.4562A>C MANE Select	ENSP00000374467.4:p.Lys1521Thr
ENST00000642271.1:c.4559A>C	ENSP00000493749.1:p.Lys1520Thr
ENST00000642579.1:c.2616A>C
ENST00000642611.1:n.5780A>C
ENST00000642902.1:c.4344A>C
ENST00000643260.1:c.4562A>C	ENSP00000494450.1:p.Lys1521Thr
ENST00000643562.1:c.*2684A>C	ENSP00000496124.1:n.*2684A>C
ENST00000643925.1:c.3185+523A>C
ENST00000644057.1:n.721A>C
ENST00000644484.1:c.*3948A>C	ENSP00000493558.1:n.*3948A>C
ENST00000644675.1:c.*2734A>C	ENSP00000494567.1:n.*2734A>C
ENST00000644757.1:c.*3203-763A>C	ENSP00000495085.1:n.*3203-763A>C
ENST00000644772.1:c.4628A>C	ENSP00000494321.1:p.Lys1543Thr
ENST00000645004.1:n.2255A>C
ENST00000645076.1:c.3657A>C
ENST00000645417.1:c.1750A>C
ENST00000645744.1:c.*4247A>C	ENSP00000494564.1:n.*4247A>C
ENST00000645760.1:c.4983A>C
ENST00000645884.1:c.*1845A>C	ENSP00000495516.1:n.*1845A>C
ENST00000646003.1:c.*2584A>C	ENSP00000495259.1:n.*2584A>C
ENST00000646207.1:c.*3399A>C	ENSP00000495025.1:n.*3399A>C
ENST00000646276.1:c.*3966A>C	ENSP00000496070.1:n.*3966A>C
ENST00000646592.1:c.3868A>C
ENST00000646902.1:c.4529A>C	ENSP00000494101.1:p.Lys1510Thr
ENST00000646993.1:c.*3000A>C	ENSP00000493720.1:n.*3000A>C
ENST00000647015.1:c.4313A>C	ENSP00000495389.1:p.Lys1438Thr
ENST00000647086.1:c.*4148A>C	ENSP00000493677.1:n.*4148A>C
ENST00000647158.1:c.*2849A>C	ENSP00000495744.1:n.*2849A>C
ENST00000302539.8:c.4565A>C	ENSP00000303960.4:p.Lys1522Thr
ENST00000389817.7:c.4562A>C	ENSP00000374467.3:p.Lys1521Thr
ENST00000525022.1:n.457A>C
ENST00000526037.5:n.322A>C
ENST00000526168.5:c.350A>C
ENST00000531642.5:c.593A>C
NM_000352.4:c.4562A>C	NP_000343.2:p.Lys1521Thr
NM_001287174.1:c.4565A>C	NP_001274103.1:p.Lys1522Thr
XM_011520331.1:c.4562A>C	XP_011518633.1:p.Lys1521Thr
XM_011520333.1:c.3062A>C	XP_011518635.1:p.Lys1021Thr
XR_930890.1:n.4524A>C
NM_001351295.1:c.4628A>C	NP_001338224.1:p.Lys1543Thr
NM_001351296.1:c.4562A>C	NP_001338225.1:p.Lys1521Thr
NM_001351297.1:c.4559A>C	NP_001338226.1:p.Lys1520Thr
NR_147094.1:n.4857A>C
XM_017018197.2:c.4631A>C	XP_016873686.1:p.Lys1544Thr
XM_017018199.1:c.4628A>C	XP_016873688.1:p.Lys1543Thr
XM_017018202.1:c.3128A>C	XP_016873691.1:p.Lys1043Thr
XM_017018204.1:c.2519A>C	XP_016873693.1:p.Lys840Thr
XM_024448668.1:c.2930A>C	XP_024304436.1:p.Lys977Thr
XR_001747945.2:n.4599A>C
XR_001747946.2:n.4530A>C
XR_002957189.1:n.6313A>C
NM_000352.6:c.4562A>C MANE Select	NP_000343.2:p.Lys1521Thr
NM_001287174.2:c.4565A>C	NP_001274103.1:p.Lys1522Thr
NM_001351295.2:c.4628A>C	NP_001338224.1:p.Lys1543Thr
NM_001351296.2:c.4562A>C	NP_001338225.1:p.Lys1521Thr
NM_001351297.2:c.4559A>C	NP_001338226.1:p.Lys1520Thr
NR_147094.2:n.4857A>C
NM_001287174.3:c.4565A>C	NP_001274103.1:p.Lys1522Thr