Canonical Allele Identifier: CA379782653

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415815T>A (hg19) ; chr11:g.17394268T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394268T>A , CM000673.2:g.17394268T>A	GRCh38
NC_000011.9:g.17415815T>A , CM000673.1:g.17415815T>A	GRCh37
NC_000011.8:g.17372391T>A	NCBI36
NG_008867.1:g.87635A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4144A>T
ENST00000526037.6:n.478A>T
ENST00000528374.2:c.1134A>T
ENST00000529967.6:n.2882A>T
ENST00000532220.2:n.3776A>T
ENST00000642611.2:n.5876A>T
ENST00000644057.2:n.1119A>T
ENST00000645004.2:n.2042A>T
ENST00000682051.1:n.4705A>T
ENST00000682110.1:n.4758A>T
ENST00000682140.1:c.*329A>T	ENSP00000507829.1:n.*329A>T
ENST00000682185.1:n.5848A>T
ENST00000682204.1:c.*2681A>T	ENSP00000507094.1:n.*2681A>T
ENST00000682215.1:n.5125A>T
ENST00000682288.1:c.*2974A>T	ENSP00000507506.1:n.*2974A>T
ENST00000682442.1:n.4978A>T
ENST00000682528.1:n.4835A>T
ENST00000682673.1:n.4702A>T
ENST00000682805.1:n.5163A>T
ENST00000682965.1:c.*965A>T	ENSP00000508229.1:n.*965A>T
ENST00000683093.1:n.5738A>T
ENST00000683136.1:c.4426A>T	ENSP00000507768.1:p.Thr1476Ser
ENST00000683153.1:n.4800A>T
ENST00000683365.1:n.4860A>T
ENST00000683377.1:n.4654A>T
ENST00000683456.1:c.*1680A>T	ENSP00000508318.1:n.*1680A>T
ENST00000683522.1:n.4840A>T
ENST00000683562.1:c.*2608A>T	ENSP00000508265.1:n.*2608A>T
ENST00000683693.1:n.6219A>T
ENST00000683725.1:c.*8A>T	ENSP00000507496.1:n.*8A>T
ENST00000684010.1:n.4753A>T
ENST00000684014.1:n.730A>T
ENST00000684157.1:n.5743A>T
ENST00000684253.1:n.4661A>T
ENST00000684288.1:c.*2715A>T	ENSP00000507143.1:n.*2715A>T
ENST00000684313.1:n.4190A>T
ENST00000684332.1:n.4831A>T
ENST00000684371.1:n.4864A>T
ENST00000684404.1:n.5786A>T
ENST00000684442.1:n.4982A>T
ENST00000684555.1:c.*2755A>T	ENSP00000507705.1:n.*2755A>T
ENST00000684571.1:c.4384A>T	ENSP00000506935.1:p.Thr1462Ser
ENST00000684593.1:c.*4248A>T	ENSP00000507005.1:n.*4248A>T
ENST00000684711.1:c.*2939A>T	ENSP00000506841.1:n.*2939A>T
ENST00000302539.9:c.4546A>T	ENSP00000303960.4:p.Thr1516Ser
ENST00000389817.8:c.4543A>T MANE Select	ENSP00000374467.4:p.Thr1515Ser
ENST00000642271.1:c.4540A>T	ENSP00000493749.1:p.Thr1514Ser
ENST00000642579.1:c.2597A>T
ENST00000642611.1:n.5761A>T
ENST00000642902.1:c.4325A>T
ENST00000643260.1:c.4543A>T	ENSP00000494450.1:p.Thr1515Ser
ENST00000643562.1:c.*2665A>T	ENSP00000496124.1:n.*2665A>T
ENST00000643925.1:c.3183A>T
ENST00000644057.1:n.702A>T
ENST00000644484.1:c.*3929A>T	ENSP00000493558.1:n.*3929A>T
ENST00000644675.1:c.*2715A>T	ENSP00000494567.1:n.*2715A>T
ENST00000644757.1:c.*3203-1288A>T	ENSP00000495085.1:n.*3203-1288A>T
ENST00000644772.1:c.4609A>T	ENSP00000494321.1:p.Thr1537Ser
ENST00000645004.1:n.2236A>T
ENST00000645076.1:c.3638A>T
ENST00000645417.1:c.1731A>T
ENST00000645744.1:c.*4228A>T	ENSP00000494564.1:n.*4228A>T
ENST00000645760.1:c.4964A>T
ENST00000645884.1:c.*1826A>T	ENSP00000495516.1:n.*1826A>T
ENST00000646003.1:c.*2565A>T	ENSP00000495259.1:n.*2565A>T
ENST00000646207.1:c.*3380A>T	ENSP00000495025.1:n.*3380A>T
ENST00000646276.1:c.*3947A>T	ENSP00000496070.1:n.*3947A>T
ENST00000646592.1:c.3849A>T
ENST00000646902.1:c.4510A>T	ENSP00000494101.1:p.Thr1504Ser
ENST00000646993.1:c.*2981A>T	ENSP00000493720.1:n.*2981A>T
ENST00000647015.1:c.4294A>T	ENSP00000495389.1:p.Thr1432Ser
ENST00000647086.1:c.*4129A>T	ENSP00000493677.1:n.*4129A>T
ENST00000647158.1:c.*2830A>T	ENSP00000495744.1:n.*2830A>T
ENST00000302539.8:c.4546A>T	ENSP00000303960.4:p.Thr1516Ser
ENST00000389817.7:c.4543A>T	ENSP00000374467.3:p.Thr1515Ser
ENST00000525022.1:n.438A>T
ENST00000526037.5:n.303A>T
ENST00000526168.5:c.331A>T
ENST00000531642.5:c.574A>T
NM_000352.4:c.4543A>T	NP_000343.2:p.Thr1515Ser
NM_001287174.1:c.4546A>T	NP_001274103.1:p.Thr1516Ser
XM_011520331.1:c.4543A>T	XP_011518633.1:p.Thr1515Ser
XM_011520332.1:c.*8A>T	XP_011518634.1:n.*8A>T
XM_011520333.1:c.3043A>T	XP_011518635.1:p.Thr1015Ser
XR_930890.1:n.4505A>T
NM_001351295.1:c.4609A>T	NP_001338224.1:p.Thr1537Ser
NM_001351296.1:c.4543A>T	NP_001338225.1:p.Thr1515Ser
NM_001351297.1:c.4540A>T	NP_001338226.1:p.Thr1514Ser
NR_147094.1:n.4838A>T
XM_017018197.2:c.4612A>T	XP_016873686.1:p.Thr1538Ser
XM_017018199.1:c.4609A>T	XP_016873688.1:p.Thr1537Ser
XM_017018201.2:c.*8A>T	XP_016873690.1:n.*8A>T
XM_017018202.1:c.3109A>T	XP_016873691.1:p.Thr1037Ser
XM_017018204.1:c.2500A>T	XP_016873693.1:p.Thr834Ser
XM_024448668.1:c.2911A>T	XP_024304436.1:p.Thr971Ser
XR_001747945.2:n.4580A>T
XR_001747946.2:n.4511A>T
XR_002957189.1:n.6294A>T
NM_000352.6:c.4543A>T MANE Select	NP_000343.2:p.Thr1515Ser
NM_001287174.2:c.4546A>T	NP_001274103.1:p.Thr1516Ser
NM_001351295.2:c.4609A>T	NP_001338224.1:p.Thr1537Ser
NM_001351296.2:c.4543A>T	NP_001338225.1:p.Thr1515Ser
NM_001351297.2:c.4540A>T	NP_001338226.1:p.Thr1514Ser
NR_147094.2:n.4838A>T
NM_001287174.3:c.4546A>T	NP_001274103.1:p.Thr1516Ser