Canonical Allele Identifier: CA473299426

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17424222G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17402675G>A , CM000673.2:g.17402675G>A	GRCh38
NC_000011.9:g.17424222G>A , CM000673.1:g.17424222G>A	GRCh37
NC_000011.8:g.17380798G>A	NCBI36
NG_008867.1:g.79228C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3205C>T
ENST00000528374.2:c.215C>T
ENST00000529967.6:n.1975C>T
ENST00000532220.2:n.1368C>T
ENST00000642611.2:n.3705C>T
ENST00000644057.2:n.79C>T
ENST00000645004.2:n.1135C>T
ENST00000682051.1:n.3652C>T
ENST00000682110.1:n.3705C>T
ENST00000682140.1:c.3633C>T	ENSP00000507829.1:p.Thr1211=
ENST00000682185.1:n.4941C>T
ENST00000682204.1:c.*1774C>T	ENSP00000507094.1:n.*1774C>T
ENST00000682215.1:n.3702C>T
ENST00000682288.1:c.*2067C>T	ENSP00000507506.1:n.*2067C>T
ENST00000682442.1:n.3925C>T
ENST00000682528.1:n.3782C>T
ENST00000682673.1:n.3649C>T
ENST00000682805.1:n.3702C>T
ENST00000682965.1:c.*58C>T	ENSP00000508229.1:n.*58C>T
ENST00000683093.1:n.3804C>T
ENST00000683136.1:c.3633C>T	ENSP00000507768.1:p.Thr1211=
ENST00000683153.1:n.3861C>T
ENST00000683365.1:n.3807C>T
ENST00000683377.1:n.3705C>T
ENST00000683456.1:c.*773C>T	ENSP00000508318.1:n.*773C>T
ENST00000683522.1:n.3705C>T
ENST00000683562.1:c.*1805C>T	ENSP00000508265.1:n.*1805C>T
ENST00000683693.1:n.3782C>T
ENST00000683725.1:c.3636C>T	ENSP00000507496.1:p.Thr1212=
ENST00000684010.1:n.3700C>T
ENST00000684157.1:n.3705C>T
ENST00000684253.1:n.3608C>T
ENST00000684288.1:c.*1808C>T	ENSP00000507143.1:n.*1808C>T
ENST00000684313.1:n.3137C>T
ENST00000684332.1:n.3778C>T
ENST00000684371.1:n.3811C>T
ENST00000684404.1:n.3748C>T
ENST00000684442.1:n.3705C>T
ENST00000684555.1:c.*1848C>T	ENSP00000507705.1:n.*1848C>T
ENST00000684571.1:c.3477C>T	ENSP00000506935.1:p.Thr1159=
ENST00000684593.1:c.*3341C>T	ENSP00000507005.1:n.*3341C>T
ENST00000684711.1:c.*2032C>T	ENSP00000506841.1:n.*2032C>T
ENST00000302539.9:c.3639C>T	ENSP00000303960.4:p.Thr1213=
ENST00000389817.8:c.3636C>T MANE Select	ENSP00000374467.4:p.Thr1212=
ENST00000642271.1:c.3633C>T	ENSP00000493749.1:p.Thr1211=
ENST00000642579.1:c.1720C>T
ENST00000642611.1:n.3590C>T
ENST00000642902.1:c.3418C>T
ENST00000643260.1:c.3636C>T	ENSP00000494450.1:p.Thr1212=
ENST00000643562.1:c.*1612C>T	ENSP00000496124.1:n.*1612C>T
ENST00000643925.1:c.1760C>T
ENST00000644447.1:c.1992C>T	ENSP00000496282.1:p.Thr664=
ENST00000644484.1:c.*1891C>T	ENSP00000493558.1:n.*1891C>T
ENST00000644675.1:c.*1808C>T	ENSP00000494567.1:n.*1808C>T
ENST00000644757.1:c.*1921C>T	ENSP00000495085.1:n.*1921C>T
ENST00000644772.1:c.3702C>T	ENSP00000494321.1:p.Thr1234=
ENST00000645004.1:n.775C>T
ENST00000645076.1:c.2835C>T
ENST00000645417.1:c.802C>T
ENST00000645744.1:c.*1900C>T	ENSP00000494564.1:n.*1900C>T
ENST00000645760.1:c.3911C>T
ENST00000645884.1:c.*773C>T	ENSP00000495516.1:n.*773C>T
ENST00000646003.1:c.*1592C>T	ENSP00000495259.1:n.*1592C>T
ENST00000646207.1:c.*2103C>T	ENSP00000495025.1:n.*2103C>T
ENST00000646276.1:c.*1909C>T	ENSP00000496070.1:n.*1909C>T
ENST00000646592.1:c.2942C>T
ENST00000646902.1:c.3633C>T	ENSP00000494101.1:p.Thr1211=
ENST00000646993.1:c.*2032C>T	ENSP00000493720.1:n.*2032C>T
ENST00000647013.1:c.3642C>T	ENSP00000496741.1:n.3642C>T
ENST00000647015.1:c.3387C>T	ENSP00000495389.1:p.Thr1129=
ENST00000647086.1:c.*3366C>T	ENSP00000493677.1:n.*3366C>T
ENST00000647158.1:c.*1777C>T	ENSP00000495744.1:n.*1777C>T
ENST00000302539.8:c.3639C>T	ENSP00000303960.4:p.Thr1213=
ENST00000389817.7:c.3636C>T	ENSP00000374467.3:p.Thr1212=
ENST00000527905.5:c.*512C>T	ENSP00000431653.1:n.*512C>T
ENST00000528374.1:c.106C>T
ENST00000531137.1:n.129C>T
ENST00000531891.1:c.4C>T
NM_000352.4:c.3636C>T	NP_000343.2:p.Thr1212=
NM_001287174.1:c.3639C>T	NP_001274103.1:p.Thr1213=
XM_011520331.1:c.3636C>T	XP_011518633.1:p.Thr1212=
XM_011520332.1:c.3639C>T	XP_011518634.1:p.Thr1213=
XM_011520333.1:c.2136C>T	XP_011518635.1:p.Thr712=
XR_930890.1:n.3702C>T
XR_930892.1:n.3602C>T
XR_930893.1:n.3599C>T
NM_001351295.1:c.3702C>T	NP_001338224.1:p.Thr1234=
NM_001351296.1:c.3636C>T	NP_001338225.1:p.Thr1212=
NM_001351297.1:c.3633C>T	NP_001338226.1:p.Thr1211=
NR_147094.1:n.3785C>T
XM_017018197.2:c.3705C>T	XP_016873686.1:p.Thr1235=
XM_017018199.1:c.3702C>T	XP_016873688.1:p.Thr1234=
XM_017018201.2:c.3705C>T	XP_016873690.1:p.Thr1235=
XM_017018202.1:c.2202C>T	XP_016873691.1:p.Thr734=
XM_017018204.1:c.1593C>T	XP_016873693.1:p.Thr531=
XM_024448668.1:c.2004C>T	XP_024304436.1:p.Thr668=
XR_001747945.2:n.3777C>T
XR_001747946.2:n.3708C>T
XR_002957189.1:n.3857C>T
NM_000352.6:c.3636C>T MANE Select	NP_000343.2:p.Thr1212=
NM_001287174.2:c.3639C>T	NP_001274103.1:p.Thr1213=
NM_001351295.2:c.3702C>T	NP_001338224.1:p.Thr1234=
NM_001351296.2:c.3636C>T	NP_001338225.1:p.Thr1212=
NM_001351297.2:c.3633C>T	NP_001338226.1:p.Thr1211=
NR_147094.2:n.3785C>T
NM_001287174.3:c.3639C>T	NP_001274103.1:p.Thr1213=