Canonical Allele Identifier: CA379790898

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418552T>A (hg19) ; chr11:g.17397005T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397005T>A , CM000673.2:g.17397005T>A	GRCh38
NC_000011.9:g.17418552T>A , CM000673.1:g.17418552T>A	GRCh37
NC_000011.8:g.17375128T>A	NCBI36
NG_008867.1:g.84898A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3631A>T
ENST00000528374.2:c.621A>T
ENST00000529967.6:n.2369A>T
ENST00000532220.2:n.2278A>T
ENST00000642611.2:n.4245A>T
ENST00000644057.2:n.473A>T
ENST00000645004.2:n.1529A>T
ENST00000682051.1:n.4192A>T
ENST00000682110.1:n.4245A>T
ENST00000682140.1:c.3985+188A>T	ENSP00000507829.1:n.3985+188A>T
ENST00000682185.1:n.5335A>T
ENST00000682204.1:c.*2168A>T	ENSP00000507094.1:n.*2168A>T
ENST00000682215.1:n.4612A>T
ENST00000682288.1:c.*2461A>T	ENSP00000507506.1:n.*2461A>T
ENST00000682442.1:n.4465A>T
ENST00000682528.1:n.4322A>T
ENST00000682673.1:n.4189A>T
ENST00000682805.1:n.4612A>T
ENST00000682965.1:c.*452A>T	ENSP00000508229.1:n.*452A>T
ENST00000683093.1:n.4344A>T
ENST00000683136.1:c.3913A>T	ENSP00000507768.1:p.Ile1305Phe
ENST00000683153.1:n.4287A>T
ENST00000683365.1:n.4347A>T
ENST00000683377.1:n.4245A>T
ENST00000683456.1:c.*1167A>T	ENSP00000508318.1:n.*1167A>T
ENST00000683522.1:n.4245A>T
ENST00000683562.1:c.*2199A>T	ENSP00000508265.1:n.*2199A>T
ENST00000683693.1:n.4692A>T
ENST00000683725.1:c.4030A>T	ENSP00000507496.1:p.Ile1344Phe
ENST00000684010.1:n.4240A>T
ENST00000684157.1:n.4245A>T
ENST00000684253.1:n.4148A>T
ENST00000684288.1:c.*2202A>T	ENSP00000507143.1:n.*2202A>T
ENST00000684313.1:n.3677A>T
ENST00000684332.1:n.4318A>T
ENST00000684371.1:n.4351A>T
ENST00000684404.1:n.4288A>T
ENST00000684442.1:n.4469A>T
ENST00000684555.1:c.*2242A>T	ENSP00000507705.1:n.*2242A>T
ENST00000684571.1:c.3871A>T	ENSP00000506935.1:p.Ile1291Phe
ENST00000684593.1:c.*3735A>T	ENSP00000507005.1:n.*3735A>T
ENST00000684711.1:c.*2426A>T	ENSP00000506841.1:n.*2426A>T
ENST00000302539.9:c.4033A>T	ENSP00000303960.4:p.Ile1345Phe
ENST00000389817.8:c.4030A>T MANE Select	ENSP00000374467.4:p.Ile1344Phe
ENST00000642271.1:c.4027A>T	ENSP00000493749.1:p.Ile1343Phe
ENST00000642579.1:c.2084A>T
ENST00000642611.1:n.4130A>T
ENST00000642902.1:c.3812A>T
ENST00000643260.1:c.4030A>T	ENSP00000494450.1:p.Ile1344Phe
ENST00000643562.1:c.*2152A>T	ENSP00000496124.1:n.*2152A>T
ENST00000643925.1:c.2670A>T
ENST00000644057.1:n.107A>T
ENST00000644484.1:c.*2431A>T	ENSP00000493558.1:n.*2431A>T
ENST00000644675.1:c.*2202A>T	ENSP00000494567.1:n.*2202A>T
ENST00000644757.1:c.*2461A>T	ENSP00000495085.1:n.*2461A>T
ENST00000644772.1:c.4096A>T	ENSP00000494321.1:p.Ile1366Phe
ENST00000645004.1:n.1685A>T
ENST00000645076.1:c.3229A>T
ENST00000645417.1:c.1218A>T
ENST00000645744.1:c.*2810A>T	ENSP00000494564.1:n.*2810A>T
ENST00000645760.1:c.4451A>T
ENST00000645884.1:c.*1313A>T	ENSP00000495516.1:n.*1313A>T
ENST00000646003.1:c.*2132A>T	ENSP00000495259.1:n.*2132A>T
ENST00000646207.1:c.*2867A>T	ENSP00000495025.1:n.*2867A>T
ENST00000646276.1:c.*2449A>T	ENSP00000496070.1:n.*2449A>T
ENST00000646592.1:c.3336A>T
ENST00000646902.1:c.3997A>T	ENSP00000494101.1:p.Ile1333Phe
ENST00000646993.1:c.*2572A>T	ENSP00000493720.1:n.*2572A>T
ENST00000647013.1:c.4036A>T	ENSP00000496741.1:n.4036A>T
ENST00000647015.1:c.3781A>T	ENSP00000495389.1:p.Ile1261Phe
ENST00000647086.1:c.*3616A>T	ENSP00000493677.1:n.*3616A>T
ENST00000647158.1:c.*2317A>T	ENSP00000495744.1:n.*2317A>T
ENST00000302539.8:c.4033A>T	ENSP00000303960.4:p.Ile1345Phe
ENST00000389817.7:c.4030A>T	ENSP00000374467.3:p.Ile1344Phe
ENST00000527905.5:c.*1052A>T	ENSP00000431653.1:n.*1052A>T
ENST00000528374.1:c.512A>T
ENST00000531137.1:n.595A>T
ENST00000531891.1:c.368A>T
ENST00000532220.1:n.504A>T
NM_000352.4:c.4030A>T	NP_000343.2:p.Ile1344Phe
NM_001287174.1:c.4033A>T	NP_001274103.1:p.Ile1345Phe
XM_011520331.1:c.4030A>T	XP_011518633.1:p.Ile1344Phe
XM_011520332.1:c.4033A>T	XP_011518634.1:p.Ile1345Phe
XM_011520333.1:c.2530A>T	XP_011518635.1:p.Ile844Phe
XR_930890.1:n.4096A>T
NM_001351295.1:c.4096A>T	NP_001338224.1:p.Ile1366Phe
NM_001351296.1:c.4030A>T	NP_001338225.1:p.Ile1344Phe
NM_001351297.1:c.4027A>T	NP_001338226.1:p.Ile1343Phe
NR_147094.1:n.4325A>T
XM_017018197.2:c.4099A>T	XP_016873686.1:p.Ile1367Phe
XM_017018199.1:c.4096A>T	XP_016873688.1:p.Ile1366Phe
XM_017018201.2:c.4099A>T	XP_016873690.1:p.Ile1367Phe
XM_017018202.1:c.2596A>T	XP_016873691.1:p.Ile866Phe
XM_017018204.1:c.1987A>T	XP_016873693.1:p.Ile663Phe
XM_024448668.1:c.2398A>T	XP_024304436.1:p.Ile800Phe
XR_001747945.2:n.4171A>T
XR_001747946.2:n.4102A>T
XR_002957189.1:n.4767A>T
NM_000352.6:c.4030A>T MANE Select	NP_000343.2:p.Ile1344Phe
NM_001287174.2:c.4033A>T	NP_001274103.1:p.Ile1345Phe
NM_001351295.2:c.4096A>T	NP_001338224.1:p.Ile1366Phe
NM_001351296.2:c.4030A>T	NP_001338225.1:p.Ile1344Phe
NM_001351297.2:c.4027A>T	NP_001338226.1:p.Ile1343Phe
NR_147094.2:n.4325A>T
NM_001287174.3:c.4033A>T	NP_001274103.1:p.Ile1345Phe