Canonical Allele Identifier: CA379790981

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418559T>A (hg19) ; chr11:g.17397012T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397012T>A , CM000673.2:g.17397012T>A	GRCh38
NC_000011.9:g.17418559T>A , CM000673.1:g.17418559T>A	GRCh37
NC_000011.8:g.17375135T>A	NCBI36
NG_008867.1:g.84891A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3624A>T
ENST00000528374.2:c.614A>T
ENST00000529967.6:n.2362A>T
ENST00000532220.2:n.2271A>T
ENST00000642611.2:n.4238A>T
ENST00000644057.2:n.466A>T
ENST00000645004.2:n.1522A>T
ENST00000682051.1:n.4185A>T
ENST00000682110.1:n.4238A>T
ENST00000682140.1:c.3985+181A>T	ENSP00000507829.1:n.3985+181A>T
ENST00000682185.1:n.5328A>T
ENST00000682204.1:c.*2161A>T	ENSP00000507094.1:n.*2161A>T
ENST00000682215.1:n.4605A>T
ENST00000682288.1:c.*2454A>T	ENSP00000507506.1:n.*2454A>T
ENST00000682442.1:n.4458A>T
ENST00000682528.1:n.4315A>T
ENST00000682673.1:n.4182A>T
ENST00000682805.1:n.4605A>T
ENST00000682965.1:c.*445A>T	ENSP00000508229.1:n.*445A>T
ENST00000683093.1:n.4337A>T
ENST00000683136.1:c.3906A>T	ENSP00000507768.1:p.Gln1302His
ENST00000683153.1:n.4280A>T
ENST00000683365.1:n.4340A>T
ENST00000683377.1:n.4238A>T
ENST00000683456.1:c.*1160A>T	ENSP00000508318.1:n.*1160A>T
ENST00000683522.1:n.4238A>T
ENST00000683562.1:c.*2192A>T	ENSP00000508265.1:n.*2192A>T
ENST00000683693.1:n.4685A>T
ENST00000683725.1:c.4023A>T	ENSP00000507496.1:p.Gln1341His
ENST00000684010.1:n.4233A>T
ENST00000684157.1:n.4238A>T
ENST00000684253.1:n.4141A>T
ENST00000684288.1:c.*2195A>T	ENSP00000507143.1:n.*2195A>T
ENST00000684313.1:n.3670A>T
ENST00000684332.1:n.4311A>T
ENST00000684371.1:n.4344A>T
ENST00000684404.1:n.4281A>T
ENST00000684442.1:n.4462A>T
ENST00000684555.1:c.*2235A>T	ENSP00000507705.1:n.*2235A>T
ENST00000684571.1:c.3864A>T	ENSP00000506935.1:p.Gln1288His
ENST00000684593.1:c.*3728A>T	ENSP00000507005.1:n.*3728A>T
ENST00000684711.1:c.*2419A>T	ENSP00000506841.1:n.*2419A>T
ENST00000302539.9:c.4026A>T	ENSP00000303960.4:p.Gln1342His
ENST00000389817.8:c.4023A>T MANE Select	ENSP00000374467.4:p.Gln1341His
ENST00000642271.1:c.4020A>T	ENSP00000493749.1:p.Gln1340His
ENST00000642579.1:c.2077A>T
ENST00000642611.1:n.4123A>T
ENST00000642902.1:c.3805A>T
ENST00000643260.1:c.4023A>T	ENSP00000494450.1:p.Gln1341His
ENST00000643562.1:c.*2145A>T	ENSP00000496124.1:n.*2145A>T
ENST00000643925.1:c.2663A>T
ENST00000644057.1:n.100A>T
ENST00000644484.1:c.*2424A>T	ENSP00000493558.1:n.*2424A>T
ENST00000644675.1:c.*2195A>T	ENSP00000494567.1:n.*2195A>T
ENST00000644757.1:c.*2454A>T	ENSP00000495085.1:n.*2454A>T
ENST00000644772.1:c.4089A>T	ENSP00000494321.1:p.Gln1363His
ENST00000645004.1:n.1678A>T
ENST00000645076.1:c.3222A>T
ENST00000645417.1:c.1211A>T
ENST00000645744.1:c.*2803A>T	ENSP00000494564.1:n.*2803A>T
ENST00000645760.1:c.4444A>T
ENST00000645884.1:c.*1306A>T	ENSP00000495516.1:n.*1306A>T
ENST00000646003.1:c.*2125A>T	ENSP00000495259.1:n.*2125A>T
ENST00000646207.1:c.*2860A>T	ENSP00000495025.1:n.*2860A>T
ENST00000646276.1:c.*2442A>T	ENSP00000496070.1:n.*2442A>T
ENST00000646592.1:c.3329A>T
ENST00000646902.1:c.3990A>T	ENSP00000494101.1:p.Gln1330His
ENST00000646993.1:c.*2565A>T	ENSP00000493720.1:n.*2565A>T
ENST00000647013.1:c.4029A>T	ENSP00000496741.1:n.4029A>T
ENST00000647015.1:c.3774A>T	ENSP00000495389.1:p.Gln1258His
ENST00000647086.1:c.*3609A>T	ENSP00000493677.1:n.*3609A>T
ENST00000647158.1:c.*2310A>T	ENSP00000495744.1:n.*2310A>T
ENST00000302539.8:c.4026A>T	ENSP00000303960.4:p.Gln1342His
ENST00000389817.7:c.4023A>T	ENSP00000374467.3:p.Gln1341His
ENST00000527905.5:c.*1045A>T	ENSP00000431653.1:n.*1045A>T
ENST00000528374.1:c.505A>T
ENST00000531137.1:n.588A>T
ENST00000531891.1:c.361A>T
ENST00000532220.1:n.497A>T
NM_000352.4:c.4023A>T	NP_000343.2:p.Gln1341His
NM_001287174.1:c.4026A>T	NP_001274103.1:p.Gln1342His
XM_011520331.1:c.4023A>T	XP_011518633.1:p.Gln1341His
XM_011520332.1:c.4026A>T	XP_011518634.1:p.Gln1342His
XM_011520333.1:c.2523A>T	XP_011518635.1:p.Gln841His
XR_930890.1:n.4089A>T
NM_001351295.1:c.4089A>T	NP_001338224.1:p.Gln1363His
NM_001351296.1:c.4023A>T	NP_001338225.1:p.Gln1341His
NM_001351297.1:c.4020A>T	NP_001338226.1:p.Gln1340His
NR_147094.1:n.4318A>T
XM_017018197.2:c.4092A>T	XP_016873686.1:p.Gln1364His
XM_017018199.1:c.4089A>T	XP_016873688.1:p.Gln1363His
XM_017018201.2:c.4092A>T	XP_016873690.1:p.Gln1364His
XM_017018202.1:c.2589A>T	XP_016873691.1:p.Gln863His
XM_017018204.1:c.1980A>T	XP_016873693.1:p.Gln660His
XM_024448668.1:c.2391A>T	XP_024304436.1:p.Gln797His
XR_001747945.2:n.4164A>T
XR_001747946.2:n.4095A>T
XR_002957189.1:n.4760A>T
NM_000352.6:c.4023A>T MANE Select	NP_000343.2:p.Gln1341His
NM_001287174.2:c.4026A>T	NP_001274103.1:p.Gln1342His
NM_001351295.2:c.4089A>T	NP_001338224.1:p.Gln1363His
NM_001351296.2:c.4023A>T	NP_001338225.1:p.Gln1341His
NM_001351297.2:c.4020A>T	NP_001338226.1:p.Gln1340His
NR_147094.2:n.4318A>T
NM_001287174.3:c.4026A>T	NP_001274103.1:p.Gln1342His