Canonical Allele Identifier: CA379815062

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17449842A>T (hg19) ; chr11:g.17428295A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428295A>T , CM000673.2:g.17428295A>T	GRCh38
NC_000011.9:g.17449842A>T , CM000673.1:g.17449842A>T	GRCh37
NC_000011.8:g.17406418A>T	NCBI36
NG_008867.1:g.53608T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1703T>A
ENST00000529967.6:n.293T>A
ENST00000642611.2:n.2100T>A
ENST00000682051.1:n.2047T>A
ENST00000682110.1:n.2100T>A
ENST00000682140.1:c.2031T>A	ENSP00000507829.1:p.Cys677Ter
ENST00000682185.1:n.3339T>A
ENST00000682204.1:c.*172T>A	ENSP00000507094.1:n.*172T>A
ENST00000682215.1:n.2100T>A
ENST00000682288.1:c.*462T>A	ENSP00000507506.1:n.*462T>A
ENST00000682442.1:n.2221T>A
ENST00000682528.1:n.2100T>A
ENST00000682673.1:n.2047T>A
ENST00000682805.1:n.2100T>A
ENST00000682965.1:c.2031T>A	ENSP00000508229.1:p.Cys677Ter
ENST00000683093.1:n.2202T>A
ENST00000683136.1:c.2031T>A	ENSP00000507768.1:p.Cys677Ter
ENST00000683153.1:n.2259T>A
ENST00000683253.1:n.3116T>A
ENST00000683365.1:n.2202T>A
ENST00000683377.1:n.2100T>A
ENST00000683456.1:c.2031T>A	ENSP00000508318.1:p.Cys677Ter
ENST00000683522.1:n.2100T>A
ENST00000683562.1:c.*203T>A	ENSP00000508265.1:n.*203T>A
ENST00000683693.1:n.2100T>A
ENST00000683725.1:c.2034T>A	ENSP00000507496.1:p.Cys678Ter
ENST00000684010.1:n.2100T>A
ENST00000684157.1:n.2100T>A
ENST00000684253.1:n.2006T>A
ENST00000684288.1:c.*203T>A	ENSP00000507143.1:n.*203T>A
ENST00000684313.1:n.1724-11333T>A
ENST00000684332.1:n.2173T>A
ENST00000684371.1:n.2206T>A
ENST00000684404.1:n.2100T>A
ENST00000684442.1:n.2100T>A
ENST00000684555.1:c.*243T>A	ENSP00000507705.1:n.*243T>A
ENST00000684571.1:c.1875T>A	ENSP00000506935.1:p.Cys625Ter
ENST00000684593.1:c.*1739T>A	ENSP00000507005.1:n.*1739T>A
ENST00000684711.1:c.*430T>A	ENSP00000506841.1:n.*430T>A
ENST00000302539.9:c.2034T>A	ENSP00000303960.4:p.Cys678Ter
ENST00000389817.8:c.2034T>A MANE Select	ENSP00000374467.4:p.Cys678Ter
ENST00000532728.6:c.1615T>A
ENST00000642271.1:c.2031T>A	ENSP00000493749.1:p.Cys677Ter
ENST00000642579.1:c.115T>A
ENST00000642611.1:n.1985T>A
ENST00000642902.1:c.1869T>A
ENST00000643260.1:c.2031T>A	ENSP00000494450.1:p.Cys677Ter
ENST00000643562.1:c.*10T>A	ENSP00000496124.1:n.*10T>A
ENST00000644447.1:c.387T>A	ENSP00000496282.1:p.Cys129Ter
ENST00000644472.1:c.*395T>A	ENSP00000495378.1:n.*395T>A
ENST00000644484.1:c.*243T>A	ENSP00000493558.1:n.*243T>A
ENST00000644542.1:c.*1736T>A	ENSP00000495532.1:n.*1736T>A
ENST00000644649.1:c.1204T>A
ENST00000644675.1:c.*203T>A	ENSP00000494567.1:n.*203T>A
ENST00000644757.1:c.*336T>A	ENSP00000495085.1:n.*336T>A
ENST00000644772.1:c.2100T>A	ENSP00000494321.1:p.Cys700Ter
ENST00000645076.1:c.1286T>A
ENST00000645744.1:c.*395T>A	ENSP00000494564.1:n.*395T>A
ENST00000645760.1:c.2309T>A
ENST00000645884.1:c.2031T>A	ENSP00000495516.1:p.Cys677Ter
ENST00000646003.1:c.*172T>A	ENSP00000495259.1:n.*172T>A
ENST00000646207.1:c.*395T>A	ENSP00000495025.1:n.*395T>A
ENST00000646276.1:c.*304T>A	ENSP00000496070.1:n.*304T>A
ENST00000646592.1:c.1257T>A
ENST00000646902.1:c.2031T>A	ENSP00000494101.1:p.Cys677Ter
ENST00000646993.1:c.*430T>A	ENSP00000493720.1:n.*430T>A
ENST00000647013.1:c.2037T>A	ENSP00000496741.1:n.2037T>A
ENST00000647015.1:c.1782T>A	ENSP00000495389.1:p.Cys594Ter
ENST00000647086.1:c.*1761T>A	ENSP00000493677.1:n.*1761T>A
ENST00000647158.1:c.*172T>A	ENSP00000495744.1:n.*172T>A
ENST00000302539.8:c.2034T>A	ENSP00000303960.4:p.Cys678Ter
ENST00000389817.7:c.2034T>A	ENSP00000374467.3:p.Cys678Ter
ENST00000527905.5:c.2004T>A	ENSP00000431653.1:p.Cys668Ter
NM_000352.4:c.2034T>A	NP_000343.2:p.Cys678Ter
NM_001287174.1:c.2034T>A	NP_001274103.1:p.Cys678Ter
XM_011520331.1:c.2031T>A	XP_011518633.1:p.Cys677Ter
XM_011520332.1:c.2034T>A	XP_011518634.1:p.Cys678Ter
XM_011520333.1:c.531T>A	XP_011518635.1:p.Cys177Ter
XM_011520334.1:c.2034T>A	XP_011518636.1:p.Cys678Ter
XR_930890.1:n.2097T>A
XR_930891.1:n.2097T>A
XR_930892.1:n.2097T>A
XR_930893.1:n.2097T>A
NM_001351295.1:c.2100T>A	NP_001338224.1:p.Cys700Ter
NM_001351296.1:c.2031T>A	NP_001338225.1:p.Cys677Ter
NM_001351297.1:c.2031T>A	NP_001338226.1:p.Cys677Ter
NR_147094.1:n.2100T>A
XM_017018197.2:c.2100T>A	XP_016873686.1:p.Cys700Ter
XM_017018199.1:c.2097T>A	XP_016873688.1:p.Cys699Ter
XM_017018201.2:c.2100T>A	XP_016873690.1:p.Cys700Ter
XM_017018202.1:c.597T>A	XP_016873691.1:p.Cys199Ter
XM_017018204.1:c.-10T>A	XP_016873693.1:n.-10T>A
XM_024448668.1:c.399T>A	XP_024304436.1:p.Cys133Ter
XR_001747945.2:n.2172T>A
XR_001747946.2:n.2106T>A
XR_002957189.1:n.2172T>A
NM_000352.6:c.2034T>A MANE Select	NP_000343.2:p.Cys678Ter
NM_001287174.2:c.2034T>A	NP_001274103.1:p.Cys678Ter
NM_001351295.2:c.2100T>A	NP_001338224.1:p.Cys700Ter
NM_001351296.2:c.2031T>A	NP_001338225.1:p.Cys677Ter
NM_001351297.2:c.2031T>A	NP_001338226.1:p.Cys677Ter
NR_147094.2:n.2100T>A
NM_001287174.3:c.2034T>A	NP_001274103.1:p.Cys678Ter