Canonical Allele Identifier: CA379796475

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17424227T>A (hg19) ; chr11:g.17402680T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17402680T>A , CM000673.2:g.17402680T>A	GRCh38
NC_000011.9:g.17424227T>A , CM000673.1:g.17424227T>A	GRCh37
NC_000011.8:g.17380803T>A	NCBI36
NG_008867.1:g.79223A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3200A>T
ENST00000528374.2:c.210A>T
ENST00000529967.6:n.1970A>T
ENST00000532220.2:n.1363A>T
ENST00000642611.2:n.3700A>T
ENST00000644057.2:n.74A>T
ENST00000645004.2:n.1130A>T
ENST00000682051.1:n.3647A>T
ENST00000682110.1:n.3700A>T
ENST00000682140.1:c.3628A>T	ENSP00000507829.1:p.Thr1210Ser
ENST00000682185.1:n.4936A>T
ENST00000682204.1:c.*1769A>T	ENSP00000507094.1:n.*1769A>T
ENST00000682215.1:n.3697A>T
ENST00000682288.1:c.*2062A>T	ENSP00000507506.1:n.*2062A>T
ENST00000682442.1:n.3920A>T
ENST00000682528.1:n.3777A>T
ENST00000682673.1:n.3644A>T
ENST00000682805.1:n.3697A>T
ENST00000682965.1:c.*53A>T	ENSP00000508229.1:n.*53A>T
ENST00000683093.1:n.3799A>T
ENST00000683136.1:c.3628A>T	ENSP00000507768.1:p.Thr1210Ser
ENST00000683153.1:n.3856A>T
ENST00000683365.1:n.3802A>T
ENST00000683377.1:n.3700A>T
ENST00000683456.1:c.*768A>T	ENSP00000508318.1:n.*768A>T
ENST00000683522.1:n.3700A>T
ENST00000683562.1:c.*1800A>T	ENSP00000508265.1:n.*1800A>T
ENST00000683693.1:n.3777A>T
ENST00000683725.1:c.3631A>T	ENSP00000507496.1:p.Thr1211Ser
ENST00000684010.1:n.3695A>T
ENST00000684157.1:n.3700A>T
ENST00000684253.1:n.3603A>T
ENST00000684288.1:c.*1803A>T	ENSP00000507143.1:n.*1803A>T
ENST00000684313.1:n.3132A>T
ENST00000684332.1:n.3773A>T
ENST00000684371.1:n.3806A>T
ENST00000684404.1:n.3743A>T
ENST00000684442.1:n.3700A>T
ENST00000684555.1:c.*1843A>T	ENSP00000507705.1:n.*1843A>T
ENST00000684571.1:c.3472A>T	ENSP00000506935.1:p.Thr1158Ser
ENST00000684593.1:c.*3336A>T	ENSP00000507005.1:n.*3336A>T
ENST00000684711.1:c.*2027A>T	ENSP00000506841.1:n.*2027A>T
ENST00000302539.9:c.3634A>T	ENSP00000303960.4:p.Thr1212Ser
ENST00000389817.8:c.3631A>T MANE Select	ENSP00000374467.4:p.Thr1211Ser
ENST00000642271.1:c.3628A>T	ENSP00000493749.1:p.Thr1210Ser
ENST00000642579.1:c.1715A>T
ENST00000642611.1:n.3585A>T
ENST00000642902.1:c.3413A>T
ENST00000643260.1:c.3631A>T	ENSP00000494450.1:p.Thr1211Ser
ENST00000643562.1:c.*1607A>T	ENSP00000496124.1:n.*1607A>T
ENST00000643925.1:c.1755A>T
ENST00000644447.1:c.1987A>T	ENSP00000496282.1:p.Thr663Ser
ENST00000644484.1:c.*1886A>T	ENSP00000493558.1:n.*1886A>T
ENST00000644675.1:c.*1803A>T	ENSP00000494567.1:n.*1803A>T
ENST00000644757.1:c.*1916A>T	ENSP00000495085.1:n.*1916A>T
ENST00000644772.1:c.3697A>T	ENSP00000494321.1:p.Thr1233Ser
ENST00000645004.1:n.770A>T
ENST00000645076.1:c.2830A>T
ENST00000645417.1:c.797A>T
ENST00000645744.1:c.*1895A>T	ENSP00000494564.1:n.*1895A>T
ENST00000645760.1:c.3906A>T
ENST00000645884.1:c.*768A>T	ENSP00000495516.1:n.*768A>T
ENST00000646003.1:c.*1587A>T	ENSP00000495259.1:n.*1587A>T
ENST00000646207.1:c.*2098A>T	ENSP00000495025.1:n.*2098A>T
ENST00000646276.1:c.*1904A>T	ENSP00000496070.1:n.*1904A>T
ENST00000646592.1:c.2937A>T
ENST00000646902.1:c.3628A>T	ENSP00000494101.1:p.Thr1210Ser
ENST00000646993.1:c.*2027A>T	ENSP00000493720.1:n.*2027A>T
ENST00000647013.1:c.3637A>T	ENSP00000496741.1:n.3637A>T
ENST00000647015.1:c.3382A>T	ENSP00000495389.1:p.Thr1128Ser
ENST00000647086.1:c.*3361A>T	ENSP00000493677.1:n.*3361A>T
ENST00000647158.1:c.*1772A>T	ENSP00000495744.1:n.*1772A>T
ENST00000302539.8:c.3634A>T	ENSP00000303960.4:p.Thr1212Ser
ENST00000389817.7:c.3631A>T	ENSP00000374467.3:p.Thr1211Ser
ENST00000527905.5:c.*507A>T	ENSP00000431653.1:n.*507A>T
ENST00000528374.1:c.101A>T
ENST00000531137.1:n.124A>T
NM_000352.4:c.3631A>T	NP_000343.2:p.Thr1211Ser
NM_001287174.1:c.3634A>T	NP_001274103.1:p.Thr1212Ser
XM_011520331.1:c.3631A>T	XP_011518633.1:p.Thr1211Ser
XM_011520332.1:c.3634A>T	XP_011518634.1:p.Thr1212Ser
XM_011520333.1:c.2131A>T	XP_011518635.1:p.Thr711Ser
XR_930890.1:n.3697A>T
XR_930892.1:n.3597A>T
XR_930893.1:n.3594A>T
NM_001351295.1:c.3697A>T	NP_001338224.1:p.Thr1233Ser
NM_001351296.1:c.3631A>T	NP_001338225.1:p.Thr1211Ser
NM_001351297.1:c.3628A>T	NP_001338226.1:p.Thr1210Ser
NR_147094.1:n.3780A>T
XM_017018197.2:c.3700A>T	XP_016873686.1:p.Thr1234Ser
XM_017018199.1:c.3697A>T	XP_016873688.1:p.Thr1233Ser
XM_017018201.2:c.3700A>T	XP_016873690.1:p.Thr1234Ser
XM_017018202.1:c.2197A>T	XP_016873691.1:p.Thr733Ser
XM_017018204.1:c.1588A>T	XP_016873693.1:p.Thr530Ser
XM_024448668.1:c.1999A>T	XP_024304436.1:p.Thr667Ser
XR_001747945.2:n.3772A>T
XR_001747946.2:n.3703A>T
XR_002957189.1:n.3852A>T
NM_000352.6:c.3631A>T MANE Select	NP_000343.2:p.Thr1211Ser
NM_001287174.2:c.3634A>T	NP_001274103.1:p.Thr1212Ser
NM_001351295.2:c.3697A>T	NP_001338224.1:p.Thr1233Ser
NM_001351296.2:c.3631A>T	NP_001338225.1:p.Thr1211Ser
NM_001351297.2:c.3628A>T	NP_001338226.1:p.Thr1210Ser
NR_147094.2:n.3780A>T
NM_001287174.3:c.3634A>T	NP_001274103.1:p.Thr1212Ser