Canonical Allele Identifier: CA379782055

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415278G>C (hg19) ; chr11:g.17393731G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393731G>C , CM000673.2:g.17393731G>C	GRCh38
NC_000011.9:g.17415278G>C , CM000673.1:g.17415278G>C	GRCh37
NC_000011.8:g.17371854G>C	NCBI36
NG_008867.1:g.88172C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4175C>G
ENST00000526037.6:n.509C>G
ENST00000528374.2:c.1165C>G
ENST00000529967.6:n.2913C>G
ENST00000532220.2:n.3807C>G
ENST00000642611.2:n.5907C>G
ENST00000644057.2:n.1150C>G
ENST00000645004.2:n.2073C>G
ENST00000682051.1:n.4736C>G
ENST00000682110.1:n.4789C>G
ENST00000682140.1:c.*360C>G	ENSP00000507829.1:n.*360C>G
ENST00000682185.1:n.5879C>G
ENST00000682204.1:c.*2712C>G	ENSP00000507094.1:n.*2712C>G
ENST00000682215.1:n.5156C>G
ENST00000682288.1:c.*3005C>G	ENSP00000507506.1:n.*3005C>G
ENST00000682442.1:n.5009C>G
ENST00000682528.1:n.4866C>G
ENST00000682673.1:n.4733C>G
ENST00000682805.1:n.5194C>G
ENST00000682965.1:c.*996C>G	ENSP00000508229.1:n.*996C>G
ENST00000683093.1:n.5769C>G
ENST00000683136.1:c.4457C>G	ENSP00000507768.1:p.Thr1486Arg
ENST00000683153.1:n.4831C>G
ENST00000683365.1:n.4891C>G
ENST00000683377.1:n.4685C>G
ENST00000683456.1:c.*1711C>G	ENSP00000508318.1:n.*1711C>G
ENST00000683522.1:n.4871C>G
ENST00000683562.1:c.*2639C>G	ENSP00000508265.1:n.*2639C>G
ENST00000683693.1:n.6250C>G
ENST00000683725.1:c.*39C>G	ENSP00000507496.1:n.*39C>G
ENST00000684010.1:n.4784C>G
ENST00000684014.1:n.761C>G
ENST00000684157.1:n.5774C>G
ENST00000684253.1:n.4692C>G
ENST00000684288.1:c.*2746C>G	ENSP00000507143.1:n.*2746C>G
ENST00000684313.1:n.4221C>G
ENST00000684332.1:n.4862C>G
ENST00000684371.1:n.4895C>G
ENST00000684404.1:n.5817C>G
ENST00000684442.1:n.5013C>G
ENST00000684555.1:c.*2786C>G	ENSP00000507705.1:n.*2786C>G
ENST00000684571.1:c.4415C>G	ENSP00000506935.1:p.Thr1472Arg
ENST00000684593.1:c.*4279C>G	ENSP00000507005.1:n.*4279C>G
ENST00000684711.1:c.*2970C>G	ENSP00000506841.1:n.*2970C>G
ENST00000302539.9:c.4577C>G	ENSP00000303960.4:p.Thr1526Arg
ENST00000389817.8:c.4574C>G MANE Select	ENSP00000374467.4:p.Thr1525Arg
ENST00000642271.1:c.4571C>G	ENSP00000493749.1:p.Thr1524Arg
ENST00000642579.1:c.2628C>G
ENST00000642611.1:n.5792C>G
ENST00000642902.1:c.4356C>G
ENST00000643260.1:c.4574C>G	ENSP00000494450.1:p.Thr1525Arg
ENST00000643562.1:c.*2696C>G	ENSP00000496124.1:n.*2696C>G
ENST00000643925.1:c.3185+535C>G
ENST00000644057.1:n.733C>G
ENST00000644484.1:c.*3960C>G	ENSP00000493558.1:n.*3960C>G
ENST00000644675.1:c.*2746C>G	ENSP00000494567.1:n.*2746C>G
ENST00000644757.1:c.*3203-751C>G	ENSP00000495085.1:n.*3203-751C>G
ENST00000644772.1:c.4640C>G	ENSP00000494321.1:p.Thr1547Arg
ENST00000645004.1:n.2267C>G
ENST00000645076.1:c.3669C>G
ENST00000645417.1:c.1762C>G
ENST00000645744.1:c.*4259C>G	ENSP00000494564.1:n.*4259C>G
ENST00000645760.1:c.4995C>G
ENST00000645884.1:c.*1857C>G	ENSP00000495516.1:n.*1857C>G
ENST00000646003.1:c.*2596C>G	ENSP00000495259.1:n.*2596C>G
ENST00000646207.1:c.*3411C>G	ENSP00000495025.1:n.*3411C>G
ENST00000646276.1:c.*3978C>G	ENSP00000496070.1:n.*3978C>G
ENST00000646592.1:c.3880C>G
ENST00000646902.1:c.4541C>G	ENSP00000494101.1:p.Thr1514Arg
ENST00000646993.1:c.*3012C>G	ENSP00000493720.1:n.*3012C>G
ENST00000647015.1:c.4325C>G	ENSP00000495389.1:p.Thr1442Arg
ENST00000647086.1:c.*4160C>G	ENSP00000493677.1:n.*4160C>G
ENST00000647158.1:c.*2861C>G	ENSP00000495744.1:n.*2861C>G
ENST00000302539.8:c.4577C>G	ENSP00000303960.4:p.Thr1526Arg
ENST00000389817.7:c.4574C>G	ENSP00000374467.3:p.Thr1525Arg
ENST00000525022.1:n.469C>G
ENST00000526037.5:n.334C>G
ENST00000526168.5:c.362C>G
ENST00000531642.5:c.605C>G
NM_000352.4:c.4574C>G	NP_000343.2:p.Thr1525Arg
NM_001287174.1:c.4577C>G	NP_001274103.1:p.Thr1526Arg
XM_011520331.1:c.4574C>G	XP_011518633.1:p.Thr1525Arg
XM_011520333.1:c.3074C>G	XP_011518635.1:p.Thr1025Arg
XR_930890.1:n.4536C>G
NM_001351295.1:c.4640C>G	NP_001338224.1:p.Thr1547Arg
NM_001351296.1:c.4574C>G	NP_001338225.1:p.Thr1525Arg
NM_001351297.1:c.4571C>G	NP_001338226.1:p.Thr1524Arg
NR_147094.1:n.4869C>G
XM_017018197.2:c.4643C>G	XP_016873686.1:p.Thr1548Arg
XM_017018199.1:c.4640C>G	XP_016873688.1:p.Thr1547Arg
XM_017018202.1:c.3140C>G	XP_016873691.1:p.Thr1047Arg
XM_017018204.1:c.2531C>G	XP_016873693.1:p.Thr844Arg
XM_024448668.1:c.2942C>G	XP_024304436.1:p.Thr981Arg
XR_001747945.2:n.4611C>G
XR_001747946.2:n.4542C>G
XR_002957189.1:n.6325C>G
NM_000352.6:c.4574C>G MANE Select	NP_000343.2:p.Thr1525Arg
NM_001287174.2:c.4577C>G	NP_001274103.1:p.Thr1526Arg
NM_001351295.2:c.4640C>G	NP_001338224.1:p.Thr1547Arg
NM_001351296.2:c.4574C>G	NP_001338225.1:p.Thr1525Arg
NM_001351297.2:c.4571C>G	NP_001338226.1:p.Thr1524Arg
NR_147094.2:n.4869C>G
NM_001287174.3:c.4577C>G	NP_001274103.1:p.Thr1526Arg