Canonical Allele Identifier: CA473516164

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17449902G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428355G>A , CM000673.2:g.17428355G>A	GRCh38
NC_000011.9:g.17449902G>A , CM000673.1:g.17449902G>A	GRCh37
NC_000011.8:g.17406478G>A	NCBI36
NG_008867.1:g.53548C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1643C>T
ENST00000529967.6:n.233C>T
ENST00000642611.2:n.2040C>T
ENST00000682051.1:n.1987C>T
ENST00000682110.1:n.2040C>T
ENST00000682140.1:c.1971C>T	ENSP00000507829.1:p.Gly657=
ENST00000682185.1:n.3279C>T
ENST00000682204.1:c.*112C>T	ENSP00000507094.1:n.*112C>T
ENST00000682215.1:n.2040C>T
ENST00000682288.1:c.*402C>T	ENSP00000507506.1:n.*402C>T
ENST00000682442.1:n.2161C>T
ENST00000682528.1:n.2040C>T
ENST00000682673.1:n.1987C>T
ENST00000682805.1:n.2040C>T
ENST00000682965.1:c.1971C>T	ENSP00000508229.1:p.Gly657=
ENST00000683093.1:n.2142C>T
ENST00000683136.1:c.1971C>T	ENSP00000507768.1:p.Gly657=
ENST00000683153.1:n.2199C>T
ENST00000683253.1:n.3056C>T
ENST00000683365.1:n.2142C>T
ENST00000683377.1:n.2040C>T
ENST00000683456.1:c.1971C>T	ENSP00000508318.1:p.Gly657=
ENST00000683522.1:n.2040C>T
ENST00000683562.1:c.*143C>T	ENSP00000508265.1:n.*143C>T
ENST00000683693.1:n.2040C>T
ENST00000683725.1:c.1974C>T	ENSP00000507496.1:p.Gly658=
ENST00000684010.1:n.2040C>T
ENST00000684157.1:n.2040C>T
ENST00000684253.1:n.1946C>T
ENST00000684288.1:c.*143C>T	ENSP00000507143.1:n.*143C>T
ENST00000684313.1:n.1724-11393C>T
ENST00000684332.1:n.2113C>T
ENST00000684371.1:n.2146C>T
ENST00000684404.1:n.2040C>T
ENST00000684442.1:n.2040C>T
ENST00000684555.1:c.*183C>T	ENSP00000507705.1:n.*183C>T
ENST00000684571.1:c.1815C>T	ENSP00000506935.1:p.Gly605=
ENST00000684593.1:c.*1679C>T	ENSP00000507005.1:n.*1679C>T
ENST00000684711.1:c.*370C>T	ENSP00000506841.1:n.*370C>T
ENST00000302539.9:c.1974C>T	ENSP00000303960.4:p.Gly658=
ENST00000389817.8:c.1974C>T MANE Select	ENSP00000374467.4:p.Gly658=
ENST00000532728.6:c.1555C>T
ENST00000642271.1:c.1971C>T	ENSP00000493749.1:p.Gly657=
ENST00000642579.1:c.55C>T
ENST00000642611.1:n.1925C>T
ENST00000642902.1:c.1809C>T
ENST00000643260.1:c.1971C>T	ENSP00000494450.1:p.Gly657=
ENST00000643562.1:c.1966C>T	ENSP00000496124.1:p.Pro656Ser
ENST00000644447.1:c.327C>T	ENSP00000496282.1:p.Gly109=
ENST00000644472.1:c.*335C>T	ENSP00000495378.1:n.*335C>T
ENST00000644484.1:c.*183C>T	ENSP00000493558.1:n.*183C>T
ENST00000644542.1:c.*1676C>T	ENSP00000495532.1:n.*1676C>T
ENST00000644649.1:c.1144C>T
ENST00000644675.1:c.*143C>T	ENSP00000494567.1:n.*143C>T
ENST00000644757.1:c.*276C>T	ENSP00000495085.1:n.*276C>T
ENST00000644772.1:c.2040C>T	ENSP00000494321.1:p.Gly680=
ENST00000645076.1:c.1226C>T
ENST00000645744.1:c.*335C>T	ENSP00000494564.1:n.*335C>T
ENST00000645760.1:c.2249C>T
ENST00000645884.1:c.1971C>T	ENSP00000495516.1:p.Gly657=
ENST00000646003.1:c.*112C>T	ENSP00000495259.1:n.*112C>T
ENST00000646207.1:c.*335C>T	ENSP00000495025.1:n.*335C>T
ENST00000646276.1:c.*244C>T	ENSP00000496070.1:n.*244C>T
ENST00000646592.1:c.1197C>T
ENST00000646902.1:c.1971C>T	ENSP00000494101.1:p.Gly657=
ENST00000646993.1:c.*370C>T	ENSP00000493720.1:n.*370C>T
ENST00000647013.1:c.1977C>T	ENSP00000496741.1:n.1977C>T
ENST00000647015.1:c.1722C>T	ENSP00000495389.1:p.Gly574=
ENST00000647086.1:c.*1701C>T	ENSP00000493677.1:n.*1701C>T
ENST00000647158.1:c.*112C>T	ENSP00000495744.1:n.*112C>T
ENST00000302539.8:c.1974C>T	ENSP00000303960.4:p.Gly658=
ENST00000389817.7:c.1974C>T	ENSP00000374467.3:p.Gly658=
ENST00000527905.5:c.1944C>T	ENSP00000431653.1:p.Gly648=
NM_000352.4:c.1974C>T	NP_000343.2:p.Gly658=
NM_001287174.1:c.1974C>T	NP_001274103.1:p.Gly658=
XM_011520331.1:c.1971C>T	XP_011518633.1:p.Gly657=
XM_011520332.1:c.1974C>T	XP_011518634.1:p.Gly658=
XM_011520333.1:c.471C>T	XP_011518635.1:p.Gly157=
XM_011520334.1:c.1974C>T	XP_011518636.1:p.Gly658=
XR_930890.1:n.2037C>T
XR_930891.1:n.2037C>T
XR_930892.1:n.2037C>T
XR_930893.1:n.2037C>T
NM_001351295.1:c.2040C>T	NP_001338224.1:p.Gly680=
NM_001351296.1:c.1971C>T	NP_001338225.1:p.Gly657=
NM_001351297.1:c.1971C>T	NP_001338226.1:p.Gly657=
NR_147094.1:n.2040C>T
XM_017018197.2:c.2040C>T	XP_016873686.1:p.Gly680=
XM_017018199.1:c.2037C>T	XP_016873688.1:p.Gly679=
XM_017018201.2:c.2040C>T	XP_016873690.1:p.Gly680=
XM_017018202.1:c.537C>T	XP_016873691.1:p.Gly179=
XM_017018204.1:c.-70C>T	XP_016873693.1:n.-70C>T
XM_024448668.1:c.339C>T	XP_024304436.1:p.Gly113=
XR_001747945.2:n.2112C>T
XR_001747946.2:n.2046C>T
XR_002957189.1:n.2112C>T
NM_000352.6:c.1974C>T MANE Select	NP_000343.2:p.Gly658=
NM_001287174.2:c.1974C>T	NP_001274103.1:p.Gly658=
NM_001351295.2:c.2040C>T	NP_001338224.1:p.Gly680=
NM_001351296.2:c.1971C>T	NP_001338225.1:p.Gly657=
NM_001351297.2:c.1971C>T	NP_001338226.1:p.Gly657=
NR_147094.2:n.2040C>T
NM_001287174.3:c.1974C>T	NP_001274103.1:p.Gly658=