Canonical Allele Identifier: CA379783209

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415877G>A (hg19) ; chr11:g.17394330G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394330G>A , CM000673.2:g.17394330G>A	GRCh38
NC_000011.9:g.17415877G>A , CM000673.1:g.17415877G>A	GRCh37
NC_000011.8:g.17372453G>A	NCBI36
NG_008867.1:g.87573C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4082C>T
ENST00000526037.6:n.416C>T
ENST00000528374.2:c.1072C>T
ENST00000529967.6:n.2820C>T
ENST00000532220.2:n.3714C>T
ENST00000642611.2:n.5814C>T
ENST00000644057.2:n.1057C>T
ENST00000645004.2:n.1980C>T
ENST00000682051.1:n.4643C>T
ENST00000682110.1:n.4696C>T
ENST00000682140.1:c.*267C>T	ENSP00000507829.1:n.*267C>T
ENST00000682185.1:n.5786C>T
ENST00000682204.1:c.*2619C>T	ENSP00000507094.1:n.*2619C>T
ENST00000682215.1:n.5063C>T
ENST00000682288.1:c.*2912C>T	ENSP00000507506.1:n.*2912C>T
ENST00000682442.1:n.4916C>T
ENST00000682528.1:n.4773C>T
ENST00000682673.1:n.4640C>T
ENST00000682805.1:n.5101C>T
ENST00000682965.1:c.*903C>T	ENSP00000508229.1:n.*903C>T
ENST00000683093.1:n.5676C>T
ENST00000683136.1:c.4364C>T	ENSP00000507768.1:p.Ala1455Val
ENST00000683153.1:n.4738C>T
ENST00000683365.1:n.4798C>T
ENST00000683377.1:n.4592C>T
ENST00000683456.1:c.*1618C>T	ENSP00000508318.1:n.*1618C>T
ENST00000683522.1:n.4778C>T
ENST00000683562.1:c.*2546C>T	ENSP00000508265.1:n.*2546C>T
ENST00000683693.1:n.6157C>T
ENST00000683725.1:c.4377C>T	ENSP00000507496.1:p.Gly1459=
ENST00000684010.1:n.4691C>T
ENST00000684014.1:n.668C>T
ENST00000684157.1:n.5681C>T
ENST00000684253.1:n.4599C>T
ENST00000684288.1:c.*2653C>T	ENSP00000507143.1:n.*2653C>T
ENST00000684313.1:n.4128C>T
ENST00000684332.1:n.4769C>T
ENST00000684371.1:n.4802C>T
ENST00000684404.1:n.5724C>T
ENST00000684442.1:n.4920C>T
ENST00000684555.1:c.*2693C>T	ENSP00000507705.1:n.*2693C>T
ENST00000684571.1:c.4322C>T	ENSP00000506935.1:p.Ala1441Val
ENST00000684593.1:c.*4186C>T	ENSP00000507005.1:n.*4186C>T
ENST00000684711.1:c.*2877C>T	ENSP00000506841.1:n.*2877C>T
ENST00000302539.9:c.4484C>T	ENSP00000303960.4:p.Ala1495Val
ENST00000389817.8:c.4481C>T MANE Select	ENSP00000374467.4:p.Ala1494Val
ENST00000642271.1:c.4478C>T	ENSP00000493749.1:p.Ala1493Val
ENST00000642579.1:c.2535C>T
ENST00000642611.1:n.5699C>T
ENST00000642902.1:c.4263C>T
ENST00000643260.1:c.4481C>T	ENSP00000494450.1:p.Ala1494Val
ENST00000643562.1:c.*2603C>T	ENSP00000496124.1:n.*2603C>T
ENST00000643925.1:c.3121C>T
ENST00000644057.1:n.640C>T
ENST00000644484.1:c.*3867C>T	ENSP00000493558.1:n.*3867C>T
ENST00000644675.1:c.*2653C>T	ENSP00000494567.1:n.*2653C>T
ENST00000644757.1:c.*3203-1350C>T	ENSP00000495085.1:n.*3203-1350C>T
ENST00000644772.1:c.4547C>T	ENSP00000494321.1:p.Ala1516Val
ENST00000645004.1:n.2174C>T
ENST00000645076.1:c.3576C>T
ENST00000645417.1:c.1669C>T
ENST00000645744.1:c.*4166C>T	ENSP00000494564.1:n.*4166C>T
ENST00000645760.1:c.4902C>T
ENST00000645884.1:c.*1764C>T	ENSP00000495516.1:n.*1764C>T
ENST00000646003.1:c.*2503C>T	ENSP00000495259.1:n.*2503C>T
ENST00000646207.1:c.*3318C>T	ENSP00000495025.1:n.*3318C>T
ENST00000646276.1:c.*3885C>T	ENSP00000496070.1:n.*3885C>T
ENST00000646592.1:c.3787C>T
ENST00000646902.1:c.4448C>T	ENSP00000494101.1:p.Ala1483Val
ENST00000646993.1:c.*2919C>T	ENSP00000493720.1:n.*2919C>T
ENST00000647013.1:c.4487C>T	ENSP00000496741.1:n.4487C>T
ENST00000647015.1:c.4232C>T	ENSP00000495389.1:p.Ala1411Val
ENST00000647086.1:c.*4067C>T	ENSP00000493677.1:n.*4067C>T
ENST00000647158.1:c.*2768C>T	ENSP00000495744.1:n.*2768C>T
ENST00000302539.8:c.4484C>T	ENSP00000303960.4:p.Ala1495Val
ENST00000389817.7:c.4481C>T	ENSP00000374467.3:p.Ala1494Val
ENST00000525022.1:n.376C>T
ENST00000526037.5:n.241C>T
ENST00000526168.5:c.269C>T
ENST00000531642.5:c.512C>T
NM_000352.4:c.4481C>T	NP_000343.2:p.Ala1494Val
NM_001287174.1:c.4484C>T	NP_001274103.1:p.Ala1495Val
XM_011520331.1:c.4481C>T	XP_011518633.1:p.Ala1494Val
XM_011520332.1:c.4380C>T	XP_011518634.1:p.Gly1460=
XM_011520333.1:c.2981C>T	XP_011518635.1:p.Ala994Val
XR_930890.1:n.4443C>T
NM_001351295.1:c.4547C>T	NP_001338224.1:p.Ala1516Val
NM_001351296.1:c.4481C>T	NP_001338225.1:p.Ala1494Val
NM_001351297.1:c.4478C>T	NP_001338226.1:p.Ala1493Val
NR_147094.1:n.4776C>T
XM_017018197.2:c.4550C>T	XP_016873686.1:p.Ala1517Val
XM_017018199.1:c.4547C>T	XP_016873688.1:p.Ala1516Val
XM_017018201.2:c.4446C>T	XP_016873690.1:p.Gly1482=
XM_017018202.1:c.3047C>T	XP_016873691.1:p.Ala1016Val
XM_017018204.1:c.2438C>T	XP_016873693.1:p.Ala813Val
XM_024448668.1:c.2849C>T	XP_024304436.1:p.Ala950Val
XR_001747945.2:n.4518C>T
XR_001747946.2:n.4449C>T
XR_002957189.1:n.6232C>T
NM_000352.6:c.4481C>T MANE Select	NP_000343.2:p.Ala1494Val
NM_001287174.2:c.4484C>T	NP_001274103.1:p.Ala1495Val
NM_001351295.2:c.4547C>T	NP_001338224.1:p.Ala1516Val
NM_001351296.2:c.4481C>T	NP_001338225.1:p.Ala1494Val
NM_001351297.2:c.4478C>T	NP_001338226.1:p.Ala1493Val
NR_147094.2:n.4776C>T
NM_001287174.3:c.4484C>T	NP_001274103.1:p.Ala1495Val