Canonical Allele Identifier: CA379781474

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17414660T>A (hg19) ; chr11:g.17393113T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393113T>A , CM000673.2:g.17393113T>A	GRCh38
NC_000011.9:g.17414660T>A , CM000673.1:g.17414660T>A	GRCh37
NC_000011.8:g.17371236T>A	NCBI36
NG_008867.1:g.88790A>T
NG_012446.1:g.547A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4225A>T
ENST00000526037.6:n.559A>T
ENST00000528374.2:c.1215A>T
ENST00000529967.6:n.2963A>T
ENST00000532220.2:n.3857A>T
ENST00000642611.2:n.5957A>T
ENST00000644057.2:n.1200A>T
ENST00000645004.2:n.2123A>T
ENST00000682051.1:n.4786A>T
ENST00000682110.1:n.4839A>T
ENST00000682140.1:c.*410A>T	ENSP00000507829.1:n.*410A>T
ENST00000682185.1:n.5929A>T
ENST00000682204.1:c.*2762A>T	ENSP00000507094.1:n.*2762A>T
ENST00000682215.1:n.5206A>T
ENST00000682288.1:c.*3055A>T	ENSP00000507506.1:n.*3055A>T
ENST00000682442.1:n.5059A>T
ENST00000682528.1:n.4916A>T
ENST00000682673.1:n.4783A>T
ENST00000682805.1:n.5244A>T
ENST00000682965.1:c.*1046A>T	ENSP00000508229.1:n.*1046A>T
ENST00000683093.1:n.5819A>T
ENST00000683136.1:c.4507A>T	ENSP00000507768.1:p.Ile1503Phe
ENST00000683153.1:n.4881A>T
ENST00000683365.1:n.4941A>T
ENST00000683377.1:n.4735A>T
ENST00000683456.1:c.*1761A>T	ENSP00000508318.1:n.*1761A>T
ENST00000683522.1:n.4921A>T
ENST00000683562.1:c.*2689A>T	ENSP00000508265.1:n.*2689A>T
ENST00000683693.1:n.6300A>T
ENST00000683725.1:c.*89A>T	ENSP00000507496.1:n.*89A>T
ENST00000684010.1:n.4834A>T
ENST00000684014.1:n.811A>T
ENST00000684157.1:n.5824A>T
ENST00000684253.1:n.4742A>T
ENST00000684288.1:c.*2796A>T	ENSP00000507143.1:n.*2796A>T
ENST00000684313.1:n.4271A>T
ENST00000684332.1:n.4912A>T
ENST00000684371.1:n.4945A>T
ENST00000684404.1:n.5867A>T
ENST00000684442.1:n.5063A>T
ENST00000684555.1:c.*2836A>T	ENSP00000507705.1:n.*2836A>T
ENST00000684571.1:c.4465A>T	ENSP00000506935.1:p.Ile1489Phe
ENST00000684593.1:c.*4329A>T	ENSP00000507005.1:n.*4329A>T
ENST00000684711.1:c.*3020A>T	ENSP00000506841.1:n.*3020A>T
ENST00000302539.9:c.4627A>T	ENSP00000303960.4:p.Ile1543Phe
ENST00000389817.8:c.4624A>T MANE Select	ENSP00000374467.4:p.Ile1542Phe
ENST00000642271.1:c.4621A>T	ENSP00000493749.1:p.Ile1541Phe
ENST00000642579.1:c.2678A>T
ENST00000642611.1:n.5842A>T
ENST00000642902.1:c.4406A>T
ENST00000643260.1:c.4624A>T	ENSP00000494450.1:p.Ile1542Phe
ENST00000643562.1:c.*2746A>T	ENSP00000496124.1:n.*2746A>T
ENST00000643925.1:c.3201A>T
ENST00000644057.1:n.783A>T
ENST00000644484.1:c.*4010A>T	ENSP00000493558.1:n.*4010A>T
ENST00000644675.1:c.*2796A>T	ENSP00000494567.1:n.*2796A>T
ENST00000644757.1:c.*3203-133A>T	ENSP00000495085.1:n.*3203-133A>T
ENST00000644772.1:c.4690A>T	ENSP00000494321.1:p.Ile1564Phe
ENST00000645004.1:n.2317A>T
ENST00000645076.1:c.3719A>T
ENST00000645417.1:c.1812A>T
ENST00000645744.1:c.*4309A>T	ENSP00000494564.1:n.*4309A>T
ENST00000645760.1:c.5045A>T
ENST00000645884.1:c.*1907A>T	ENSP00000495516.1:n.*1907A>T
ENST00000646003.1:c.*2646A>T	ENSP00000495259.1:n.*2646A>T
ENST00000646207.1:c.*3461A>T	ENSP00000495025.1:n.*3461A>T
ENST00000646276.1:c.*4028A>T	ENSP00000496070.1:n.*4028A>T
ENST00000646592.1:c.3930A>T
ENST00000646902.1:c.4591A>T	ENSP00000494101.1:p.Ile1531Phe
ENST00000646993.1:c.*3062A>T	ENSP00000493720.1:n.*3062A>T
ENST00000647015.1:c.4375A>T	ENSP00000495389.1:p.Ile1459Phe
ENST00000647086.1:c.*4210A>T	ENSP00000493677.1:n.*4210A>T
ENST00000647158.1:c.*2911A>T	ENSP00000495744.1:n.*2911A>T
ENST00000302539.8:c.4627A>T	ENSP00000303960.4:p.Ile1543Phe
ENST00000389817.7:c.4624A>T	ENSP00000374467.3:p.Ile1542Phe
ENST00000525022.1:n.603A>T
ENST00000526037.5:n.384A>T
ENST00000526168.5:c.412A>T
ENST00000531642.5:c.655A>T
NM_000352.4:c.4624A>T	NP_000343.2:p.Ile1542Phe
NM_001287174.1:c.4627A>T	NP_001274103.1:p.Ile1543Phe
XM_011520331.1:c.4624A>T	XP_011518633.1:p.Ile1542Phe
XM_011520333.1:c.3124A>T	XP_011518635.1:p.Ile1042Phe
XR_930890.1:n.4586A>T
NM_001351295.1:c.4690A>T	NP_001338224.1:p.Ile1564Phe
NM_001351296.1:c.4624A>T	NP_001338225.1:p.Ile1542Phe
NM_001351297.1:c.4621A>T	NP_001338226.1:p.Ile1541Phe
NR_147094.1:n.4919A>T
XM_017018197.2:c.4693A>T	XP_016873686.1:p.Ile1565Phe
XM_017018199.1:c.4690A>T	XP_016873688.1:p.Ile1564Phe
XM_017018202.1:c.3190A>T	XP_016873691.1:p.Ile1064Phe
XM_017018204.1:c.2581A>T	XP_016873693.1:p.Ile861Phe
XM_024448668.1:c.2992A>T	XP_024304436.1:p.Ile998Phe
XR_001747945.2:n.4661A>T
XR_001747946.2:n.4592A>T
XR_002957189.1:n.6375A>T
NM_000352.6:c.4624A>T MANE Select	NP_000343.2:p.Ile1542Phe
NM_001287174.2:c.4627A>T	NP_001274103.1:p.Ile1543Phe
NM_001351295.2:c.4690A>T	NP_001338224.1:p.Ile1564Phe
NM_001351296.2:c.4624A>T	NP_001338225.1:p.Ile1542Phe
NM_001351297.2:c.4621A>T	NP_001338226.1:p.Ile1541Phe
NR_147094.2:n.4919A>T
NM_001287174.3:c.4627A>T	NP_001274103.1:p.Ile1543Phe