Canonical Allele Identifier: CA379797806

Gene: ABCC8

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3083A>C
ENST00000528374.2:c.93A>C
ENST00000529967.6:n.1853A>C
ENST00000532220.2:n.1246A>C
ENST00000642611.2:n.3583A>C
ENST00000645004.2:n.1013A>C
ENST00000682051.1:n.3530A>C
ENST00000682110.1:n.3583A>C
ENST00000682140.1:c.3511A>C	ENSP00000507829.1:p.Ile1171Leu
ENST00000682185.1:n.4819A>C
ENST00000682204.1:c.*1652A>C	ENSP00000507094.1:n.*1652A>C
ENST00000682215.1:n.3580A>C
ENST00000682288.1:c.*1945A>C	ENSP00000507506.1:n.*1945A>C
ENST00000682442.1:n.3803A>C
ENST00000682528.1:n.3660A>C
ENST00000682673.1:n.3527A>C
ENST00000682805.1:n.3580A>C
ENST00000682965.1:c.3396+939A>C	ENSP00000508229.1:n.3396+939A>C
ENST00000683093.1:n.3682A>C
ENST00000683136.1:c.3511A>C	ENSP00000507768.1:p.Ile1171Leu
ENST00000683153.1:n.3739A>C
ENST00000683365.1:n.3685A>C
ENST00000683377.1:n.3583A>C
ENST00000683456.1:c.*651A>C	ENSP00000508318.1:n.*651A>C
ENST00000683522.1:n.3583A>C
ENST00000683562.1:c.*1683A>C	ENSP00000508265.1:n.*1683A>C
ENST00000683693.1:n.3660A>C
ENST00000683725.1:c.3514A>C	ENSP00000507496.1:p.Ile1172Leu
ENST00000684010.1:n.3578A>C
ENST00000684157.1:n.3583A>C
ENST00000684253.1:n.3486A>C
ENST00000684288.1:c.*1686A>C	ENSP00000507143.1:n.*1686A>C
ENST00000684313.1:n.3015A>C
ENST00000684332.1:n.3656A>C
ENST00000684371.1:n.3689A>C
ENST00000684404.1:n.3626A>C
ENST00000684442.1:n.3583A>C
ENST00000684555.1:c.*1726A>C	ENSP00000507705.1:n.*1726A>C
ENST00000684571.1:c.3355A>C	ENSP00000506935.1:p.Ile1119Leu
ENST00000684593.1:c.*3219A>C	ENSP00000507005.1:n.*3219A>C
ENST00000684711.1:c.*1910A>C	ENSP00000506841.1:n.*1910A>C
ENST00000302539.9:c.3517A>C	ENSP00000303960.4:p.Ile1173Leu
ENST00000389817.8:c.3514A>C MANE Select	ENSP00000374467.4:p.Ile1172Leu
ENST00000642271.1:c.3511A>C	ENSP00000493749.1:p.Ile1171Leu
ENST00000642579.1:c.1598A>C
ENST00000642611.1:n.3468A>C
ENST00000642902.1:c.3296A>C
ENST00000643260.1:c.3514A>C	ENSP00000494450.1:p.Ile1172Leu
ENST00000643562.1:c.*1490A>C	ENSP00000496124.1:n.*1490A>C
ENST00000643925.1:c.1638A>C
ENST00000644447.1:c.1870A>C	ENSP00000496282.1:p.Ile624Leu
ENST00000644484.1:c.*1769A>C	ENSP00000493558.1:n.*1769A>C
ENST00000644675.1:c.*1686A>C	ENSP00000494567.1:n.*1686A>C
ENST00000644757.1:c.*1799A>C	ENSP00000495085.1:n.*1799A>C
ENST00000644772.1:c.3580A>C	ENSP00000494321.1:p.Ile1194Leu
ENST00000645004.1:n.653A>C
ENST00000645076.1:c.2713A>C
ENST00000645417.1:c.680A>C
ENST00000645744.1:c.*1778A>C	ENSP00000494564.1:n.*1778A>C
ENST00000645760.1:c.3789A>C
ENST00000645884.1:c.*651A>C	ENSP00000495516.1:n.*651A>C
ENST00000646003.1:c.*1470A>C	ENSP00000495259.1:n.*1470A>C
ENST00000646207.1:c.*1981A>C	ENSP00000495025.1:n.*1981A>C
ENST00000646276.1:c.*1787A>C	ENSP00000496070.1:n.*1787A>C
ENST00000646592.1:c.2820A>C
ENST00000646902.1:c.3511A>C	ENSP00000494101.1:p.Ile1171Leu
ENST00000646993.1:c.*1910A>C	ENSP00000493720.1:n.*1910A>C
ENST00000647013.1:c.3520A>C	ENSP00000496741.1:n.3520A>C
ENST00000647015.1:c.3265A>C	ENSP00000495389.1:p.Ile1089Leu
ENST00000647086.1:c.*3244A>C	ENSP00000493677.1:n.*3244A>C
ENST00000647158.1:c.*1655A>C	ENSP00000495744.1:n.*1655A>C
ENST00000302539.8:c.3517A>C	ENSP00000303960.4:p.Ile1173Leu
ENST00000389817.7:c.3514A>C	ENSP00000374467.3:p.Ile1172Leu
ENST00000524561.1:n.646A>C
ENST00000527905.5:c.*390A>C	ENSP00000431653.1:n.*390A>C
ENST00000531137.1:n.7A>C
NM_000352.4:c.3514A>C	NP_000343.2:p.Ile1172Leu
NM_001287174.1:c.3517A>C	NP_001274103.1:p.Ile1173Leu
XM_011520331.1:c.3514A>C	XP_011518633.1:p.Ile1172Leu
XM_011520332.1:c.3517A>C	XP_011518634.1:p.Ile1173Leu
XM_011520333.1:c.2014A>C	XP_011518635.1:p.Ile672Leu
XR_930890.1:n.3580A>C
XR_930892.1:n.3480A>C
XR_930893.1:n.3477A>C
NM_001351295.1:c.3580A>C	NP_001338224.1:p.Ile1194Leu
NM_001351296.1:c.3514A>C	NP_001338225.1:p.Ile1172Leu
NM_001351297.1:c.3511A>C	NP_001338226.1:p.Ile1171Leu
NR_147094.1:n.3663A>C
XM_017018197.2:c.3583A>C	XP_016873686.1:p.Ile1195Leu
XM_017018199.1:c.3580A>C	XP_016873688.1:p.Ile1194Leu
XM_017018201.2:c.3583A>C	XP_016873690.1:p.Ile1195Leu
XM_017018202.1:c.2080A>C	XP_016873691.1:p.Ile694Leu
XM_017018204.1:c.1471A>C	XP_016873693.1:p.Ile491Leu
XM_024448668.1:c.1882A>C	XP_024304436.1:p.Ile628Leu
XR_001747945.2:n.3655A>C
XR_001747946.2:n.3586A>C
XR_002957189.1:n.3735A>C
NM_000352.6:c.3514A>C MANE Select	NP_000343.2:p.Ile1172Leu
NM_001287174.2:c.3517A>C	NP_001274103.1:p.Ile1173Leu
NM_001351295.2:c.3580A>C	NP_001338224.1:p.Ile1194Leu
NM_001351296.2:c.3514A>C	NP_001338225.1:p.Ile1172Leu
NM_001351297.2:c.3511A>C	NP_001338226.1:p.Ile1171Leu
NR_147094.2:n.3663A>C
NM_001287174.3:c.3517A>C	NP_001274103.1:p.Ile1173Leu