Canonical Allele Identifier: CA379782058

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415279T>A (hg19) ; chr11:g.17393732T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393732T>A , CM000673.2:g.17393732T>A	GRCh38
NC_000011.9:g.17415279T>A , CM000673.1:g.17415279T>A	GRCh37
NC_000011.8:g.17371855T>A	NCBI36
NG_008867.1:g.88171A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4174A>T
ENST00000526037.6:n.508A>T
ENST00000528374.2:c.1164A>T
ENST00000529967.6:n.2912A>T
ENST00000532220.2:n.3806A>T
ENST00000642611.2:n.5906A>T
ENST00000644057.2:n.1149A>T
ENST00000645004.2:n.2072A>T
ENST00000682051.1:n.4735A>T
ENST00000682110.1:n.4788A>T
ENST00000682140.1:c.*359A>T	ENSP00000507829.1:n.*359A>T
ENST00000682185.1:n.5878A>T
ENST00000682204.1:c.*2711A>T	ENSP00000507094.1:n.*2711A>T
ENST00000682215.1:n.5155A>T
ENST00000682288.1:c.*3004A>T	ENSP00000507506.1:n.*3004A>T
ENST00000682442.1:n.5008A>T
ENST00000682528.1:n.4865A>T
ENST00000682673.1:n.4732A>T
ENST00000682805.1:n.5193A>T
ENST00000682965.1:c.*995A>T	ENSP00000508229.1:n.*995A>T
ENST00000683093.1:n.5768A>T
ENST00000683136.1:c.4456A>T	ENSP00000507768.1:p.Thr1486Ser
ENST00000683153.1:n.4830A>T
ENST00000683365.1:n.4890A>T
ENST00000683377.1:n.4684A>T
ENST00000683456.1:c.*1710A>T	ENSP00000508318.1:n.*1710A>T
ENST00000683522.1:n.4870A>T
ENST00000683562.1:c.*2638A>T	ENSP00000508265.1:n.*2638A>T
ENST00000683693.1:n.6249A>T
ENST00000683725.1:c.*38A>T	ENSP00000507496.1:n.*38A>T
ENST00000684010.1:n.4783A>T
ENST00000684014.1:n.760A>T
ENST00000684157.1:n.5773A>T
ENST00000684253.1:n.4691A>T
ENST00000684288.1:c.*2745A>T	ENSP00000507143.1:n.*2745A>T
ENST00000684313.1:n.4220A>T
ENST00000684332.1:n.4861A>T
ENST00000684371.1:n.4894A>T
ENST00000684404.1:n.5816A>T
ENST00000684442.1:n.5012A>T
ENST00000684555.1:c.*2785A>T	ENSP00000507705.1:n.*2785A>T
ENST00000684571.1:c.4414A>T	ENSP00000506935.1:p.Thr1472Ser
ENST00000684593.1:c.*4278A>T	ENSP00000507005.1:n.*4278A>T
ENST00000684711.1:c.*2969A>T	ENSP00000506841.1:n.*2969A>T
ENST00000302539.9:c.4576A>T	ENSP00000303960.4:p.Thr1526Ser
ENST00000389817.8:c.4573A>T MANE Select	ENSP00000374467.4:p.Thr1525Ser
ENST00000642271.1:c.4570A>T	ENSP00000493749.1:p.Thr1524Ser
ENST00000642579.1:c.2627A>T
ENST00000642611.1:n.5791A>T
ENST00000642902.1:c.4355A>T
ENST00000643260.1:c.4573A>T	ENSP00000494450.1:p.Thr1525Ser
ENST00000643562.1:c.*2695A>T	ENSP00000496124.1:n.*2695A>T
ENST00000643925.1:c.3185+534A>T
ENST00000644057.1:n.732A>T
ENST00000644484.1:c.*3959A>T	ENSP00000493558.1:n.*3959A>T
ENST00000644675.1:c.*2745A>T	ENSP00000494567.1:n.*2745A>T
ENST00000644757.1:c.*3203-752A>T	ENSP00000495085.1:n.*3203-752A>T
ENST00000644772.1:c.4639A>T	ENSP00000494321.1:p.Thr1547Ser
ENST00000645004.1:n.2266A>T
ENST00000645076.1:c.3668A>T
ENST00000645417.1:c.1761A>T
ENST00000645744.1:c.*4258A>T	ENSP00000494564.1:n.*4258A>T
ENST00000645760.1:c.4994A>T
ENST00000645884.1:c.*1856A>T	ENSP00000495516.1:n.*1856A>T
ENST00000646003.1:c.*2595A>T	ENSP00000495259.1:n.*2595A>T
ENST00000646207.1:c.*3410A>T	ENSP00000495025.1:n.*3410A>T
ENST00000646276.1:c.*3977A>T	ENSP00000496070.1:n.*3977A>T
ENST00000646592.1:c.3879A>T
ENST00000646902.1:c.4540A>T	ENSP00000494101.1:p.Thr1514Ser
ENST00000646993.1:c.*3011A>T	ENSP00000493720.1:n.*3011A>T
ENST00000647015.1:c.4324A>T	ENSP00000495389.1:p.Thr1442Ser
ENST00000647086.1:c.*4159A>T	ENSP00000493677.1:n.*4159A>T
ENST00000647158.1:c.*2860A>T	ENSP00000495744.1:n.*2860A>T
ENST00000302539.8:c.4576A>T	ENSP00000303960.4:p.Thr1526Ser
ENST00000389817.7:c.4573A>T	ENSP00000374467.3:p.Thr1525Ser
ENST00000525022.1:n.468A>T
ENST00000526037.5:n.333A>T
ENST00000526168.5:c.361A>T
ENST00000531642.5:c.604A>T
NM_000352.4:c.4573A>T	NP_000343.2:p.Thr1525Ser
NM_001287174.1:c.4576A>T	NP_001274103.1:p.Thr1526Ser
XM_011520331.1:c.4573A>T	XP_011518633.1:p.Thr1525Ser
XM_011520333.1:c.3073A>T	XP_011518635.1:p.Thr1025Ser
XR_930890.1:n.4535A>T
NM_001351295.1:c.4639A>T	NP_001338224.1:p.Thr1547Ser
NM_001351296.1:c.4573A>T	NP_001338225.1:p.Thr1525Ser
NM_001351297.1:c.4570A>T	NP_001338226.1:p.Thr1524Ser
NR_147094.1:n.4868A>T
XM_017018197.2:c.4642A>T	XP_016873686.1:p.Thr1548Ser
XM_017018199.1:c.4639A>T	XP_016873688.1:p.Thr1547Ser
XM_017018202.1:c.3139A>T	XP_016873691.1:p.Thr1047Ser
XM_017018204.1:c.2530A>T	XP_016873693.1:p.Thr844Ser
XM_024448668.1:c.2941A>T	XP_024304436.1:p.Thr981Ser
XR_001747945.2:n.4610A>T
XR_001747946.2:n.4541A>T
XR_002957189.1:n.6324A>T
NM_000352.6:c.4573A>T MANE Select	NP_000343.2:p.Thr1525Ser
NM_001287174.2:c.4576A>T	NP_001274103.1:p.Thr1526Ser
NM_001351295.2:c.4639A>T	NP_001338224.1:p.Thr1547Ser
NM_001351296.2:c.4573A>T	NP_001338225.1:p.Thr1525Ser
NM_001351297.2:c.4570A>T	NP_001338226.1:p.Thr1524Ser
NR_147094.2:n.4868A>T
NM_001287174.3:c.4576A>T	NP_001274103.1:p.Thr1526Ser