Canonical Allele Identifier: CA379797802

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426102T>A (hg19) ; chr11:g.17404555T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404555T>A , CM000673.2:g.17404555T>A	GRCh38
NC_000011.9:g.17426102T>A , CM000673.1:g.17426102T>A	GRCh37
NC_000011.8:g.17382678T>A	NCBI36
NG_008867.1:g.77348A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3083A>T
ENST00000528374.2:c.93A>T
ENST00000529967.6:n.1853A>T
ENST00000532220.2:n.1246A>T
ENST00000642611.2:n.3583A>T
ENST00000645004.2:n.1013A>T
ENST00000682051.1:n.3530A>T
ENST00000682110.1:n.3583A>T
ENST00000682140.1:c.3511A>T	ENSP00000507829.1:p.Ile1171Phe
ENST00000682185.1:n.4819A>T
ENST00000682204.1:c.*1652A>T	ENSP00000507094.1:n.*1652A>T
ENST00000682215.1:n.3580A>T
ENST00000682288.1:c.*1945A>T	ENSP00000507506.1:n.*1945A>T
ENST00000682442.1:n.3803A>T
ENST00000682528.1:n.3660A>T
ENST00000682673.1:n.3527A>T
ENST00000682805.1:n.3580A>T
ENST00000682965.1:c.3396+939A>T	ENSP00000508229.1:n.3396+939A>T
ENST00000683093.1:n.3682A>T
ENST00000683136.1:c.3511A>T	ENSP00000507768.1:p.Ile1171Phe
ENST00000683153.1:n.3739A>T
ENST00000683365.1:n.3685A>T
ENST00000683377.1:n.3583A>T
ENST00000683456.1:c.*651A>T	ENSP00000508318.1:n.*651A>T
ENST00000683522.1:n.3583A>T
ENST00000683562.1:c.*1683A>T	ENSP00000508265.1:n.*1683A>T
ENST00000683693.1:n.3660A>T
ENST00000683725.1:c.3514A>T	ENSP00000507496.1:p.Ile1172Phe
ENST00000684010.1:n.3578A>T
ENST00000684157.1:n.3583A>T
ENST00000684253.1:n.3486A>T
ENST00000684288.1:c.*1686A>T	ENSP00000507143.1:n.*1686A>T
ENST00000684313.1:n.3015A>T
ENST00000684332.1:n.3656A>T
ENST00000684371.1:n.3689A>T
ENST00000684404.1:n.3626A>T
ENST00000684442.1:n.3583A>T
ENST00000684555.1:c.*1726A>T	ENSP00000507705.1:n.*1726A>T
ENST00000684571.1:c.3355A>T	ENSP00000506935.1:p.Ile1119Phe
ENST00000684593.1:c.*3219A>T	ENSP00000507005.1:n.*3219A>T
ENST00000684711.1:c.*1910A>T	ENSP00000506841.1:n.*1910A>T
ENST00000302539.9:c.3517A>T	ENSP00000303960.4:p.Ile1173Phe
ENST00000389817.8:c.3514A>T MANE Select	ENSP00000374467.4:p.Ile1172Phe
ENST00000642271.1:c.3511A>T	ENSP00000493749.1:p.Ile1171Phe
ENST00000642579.1:c.1598A>T
ENST00000642611.1:n.3468A>T
ENST00000642902.1:c.3296A>T
ENST00000643260.1:c.3514A>T	ENSP00000494450.1:p.Ile1172Phe
ENST00000643562.1:c.*1490A>T	ENSP00000496124.1:n.*1490A>T
ENST00000643925.1:c.1638A>T
ENST00000644447.1:c.1870A>T	ENSP00000496282.1:p.Ile624Phe
ENST00000644484.1:c.*1769A>T	ENSP00000493558.1:n.*1769A>T
ENST00000644675.1:c.*1686A>T	ENSP00000494567.1:n.*1686A>T
ENST00000644757.1:c.*1799A>T	ENSP00000495085.1:n.*1799A>T
ENST00000644772.1:c.3580A>T	ENSP00000494321.1:p.Ile1194Phe
ENST00000645004.1:n.653A>T
ENST00000645076.1:c.2713A>T
ENST00000645417.1:c.680A>T
ENST00000645744.1:c.*1778A>T	ENSP00000494564.1:n.*1778A>T
ENST00000645760.1:c.3789A>T
ENST00000645884.1:c.*651A>T	ENSP00000495516.1:n.*651A>T
ENST00000646003.1:c.*1470A>T	ENSP00000495259.1:n.*1470A>T
ENST00000646207.1:c.*1981A>T	ENSP00000495025.1:n.*1981A>T
ENST00000646276.1:c.*1787A>T	ENSP00000496070.1:n.*1787A>T
ENST00000646592.1:c.2820A>T
ENST00000646902.1:c.3511A>T	ENSP00000494101.1:p.Ile1171Phe
ENST00000646993.1:c.*1910A>T	ENSP00000493720.1:n.*1910A>T
ENST00000647013.1:c.3520A>T	ENSP00000496741.1:n.3520A>T
ENST00000647015.1:c.3265A>T	ENSP00000495389.1:p.Ile1089Phe
ENST00000647086.1:c.*3244A>T	ENSP00000493677.1:n.*3244A>T
ENST00000647158.1:c.*1655A>T	ENSP00000495744.1:n.*1655A>T
ENST00000302539.8:c.3517A>T	ENSP00000303960.4:p.Ile1173Phe
ENST00000389817.7:c.3514A>T	ENSP00000374467.3:p.Ile1172Phe
ENST00000524561.1:n.646A>T
ENST00000527905.5:c.*390A>T	ENSP00000431653.1:n.*390A>T
ENST00000531137.1:n.7A>T
NM_000352.4:c.3514A>T	NP_000343.2:p.Ile1172Phe
NM_001287174.1:c.3517A>T	NP_001274103.1:p.Ile1173Phe
XM_011520331.1:c.3514A>T	XP_011518633.1:p.Ile1172Phe
XM_011520332.1:c.3517A>T	XP_011518634.1:p.Ile1173Phe
XM_011520333.1:c.2014A>T	XP_011518635.1:p.Ile672Phe
XR_930890.1:n.3580A>T
XR_930892.1:n.3480A>T
XR_930893.1:n.3477A>T
NM_001351295.1:c.3580A>T	NP_001338224.1:p.Ile1194Phe
NM_001351296.1:c.3514A>T	NP_001338225.1:p.Ile1172Phe
NM_001351297.1:c.3511A>T	NP_001338226.1:p.Ile1171Phe
NR_147094.1:n.3663A>T
XM_017018197.2:c.3583A>T	XP_016873686.1:p.Ile1195Phe
XM_017018199.1:c.3580A>T	XP_016873688.1:p.Ile1194Phe
XM_017018201.2:c.3583A>T	XP_016873690.1:p.Ile1195Phe
XM_017018202.1:c.2080A>T	XP_016873691.1:p.Ile694Phe
XM_017018204.1:c.1471A>T	XP_016873693.1:p.Ile491Phe
XM_024448668.1:c.1882A>T	XP_024304436.1:p.Ile628Phe
XR_001747945.2:n.3655A>T
XR_001747946.2:n.3586A>T
XR_002957189.1:n.3735A>T
NM_000352.6:c.3514A>T MANE Select	NP_000343.2:p.Ile1172Phe
NM_001287174.2:c.3517A>T	NP_001274103.1:p.Ile1173Phe
NM_001351295.2:c.3580A>T	NP_001338224.1:p.Ile1194Phe
NM_001351296.2:c.3514A>T	NP_001338225.1:p.Ile1172Phe
NM_001351297.2:c.3511A>T	NP_001338226.1:p.Ile1171Phe
NR_147094.2:n.3663A>T
NM_001287174.3:c.3517A>T	NP_001274103.1:p.Ile1173Phe