Canonical Allele Identifier: CA379799586

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426200A>G (hg19) ; chr11:g.17404653A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404653A>G , CM000673.2:g.17404653A>G	GRCh38
NC_000011.9:g.17426200A>G , CM000673.1:g.17426200A>G	GRCh37
NC_000011.8:g.17382776A>G	NCBI36
NG_008867.1:g.77250T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2985T>C
ENST00000529967.6:n.1755T>C
ENST00000532220.2:n.1148T>C
ENST00000642611.2:n.3485T>C
ENST00000645004.2:n.915T>C
ENST00000682051.1:n.3432T>C
ENST00000682110.1:n.3485T>C
ENST00000682140.1:c.3413T>C	ENSP00000507829.1:p.Leu1138Pro
ENST00000682185.1:n.4721T>C
ENST00000682204.1:c.*1554T>C	ENSP00000507094.1:n.*1554T>C
ENST00000682215.1:n.3482T>C
ENST00000682288.1:c.*1847T>C	ENSP00000507506.1:n.*1847T>C
ENST00000682442.1:n.3705T>C
ENST00000682528.1:n.3562T>C
ENST00000682673.1:n.3429T>C
ENST00000682805.1:n.3482T>C
ENST00000682965.1:c.3396+841T>C	ENSP00000508229.1:n.3396+841T>C
ENST00000683093.1:n.3584T>C
ENST00000683136.1:c.3413T>C	ENSP00000507768.1:p.Leu1138Pro
ENST00000683153.1:n.3641T>C
ENST00000683365.1:n.3587T>C
ENST00000683377.1:n.3485T>C
ENST00000683456.1:c.*553T>C	ENSP00000508318.1:n.*553T>C
ENST00000683522.1:n.3485T>C
ENST00000683562.1:c.*1585T>C	ENSP00000508265.1:n.*1585T>C
ENST00000683693.1:n.3562T>C
ENST00000683725.1:c.3416T>C	ENSP00000507496.1:p.Leu1139Pro
ENST00000684010.1:n.3480T>C
ENST00000684157.1:n.3485T>C
ENST00000684253.1:n.3388T>C
ENST00000684288.1:c.*1588T>C	ENSP00000507143.1:n.*1588T>C
ENST00000684313.1:n.2917T>C
ENST00000684332.1:n.3558T>C
ENST00000684371.1:n.3591T>C
ENST00000684404.1:n.3528T>C
ENST00000684442.1:n.3485T>C
ENST00000684555.1:c.*1628T>C	ENSP00000507705.1:n.*1628T>C
ENST00000684571.1:c.3257T>C	ENSP00000506935.1:p.Leu1086Pro
ENST00000684593.1:c.*3121T>C	ENSP00000507005.1:n.*3121T>C
ENST00000684711.1:c.*1812T>C	ENSP00000506841.1:n.*1812T>C
ENST00000302539.9:c.3419T>C	ENSP00000303960.4:p.Leu1140Pro
ENST00000389817.8:c.3416T>C MANE Select	ENSP00000374467.4:p.Leu1139Pro
ENST00000642271.1:c.3413T>C	ENSP00000493749.1:p.Leu1138Pro
ENST00000642579.1:c.1500T>C
ENST00000642611.1:n.3370T>C
ENST00000642902.1:c.3198T>C
ENST00000643260.1:c.3416T>C	ENSP00000494450.1:p.Leu1139Pro
ENST00000643562.1:c.*1392T>C	ENSP00000496124.1:n.*1392T>C
ENST00000643925.1:c.1540T>C
ENST00000644447.1:c.1772T>C	ENSP00000496282.1:p.Leu591Pro
ENST00000644484.1:c.*1671T>C	ENSP00000493558.1:n.*1671T>C
ENST00000644675.1:c.*1588T>C	ENSP00000494567.1:n.*1588T>C
ENST00000644757.1:c.*1701T>C	ENSP00000495085.1:n.*1701T>C
ENST00000644772.1:c.3482T>C	ENSP00000494321.1:p.Leu1161Pro
ENST00000645004.1:n.555T>C
ENST00000645076.1:c.2615T>C
ENST00000645417.1:c.582T>C
ENST00000645744.1:c.*1680T>C	ENSP00000494564.1:n.*1680T>C
ENST00000645760.1:c.3691T>C
ENST00000645884.1:c.*553T>C	ENSP00000495516.1:n.*553T>C
ENST00000646003.1:c.*1372T>C	ENSP00000495259.1:n.*1372T>C
ENST00000646207.1:c.*1883T>C	ENSP00000495025.1:n.*1883T>C
ENST00000646276.1:c.*1689T>C	ENSP00000496070.1:n.*1689T>C
ENST00000646592.1:c.2722T>C
ENST00000646902.1:c.3413T>C	ENSP00000494101.1:p.Leu1138Pro
ENST00000646993.1:c.*1812T>C	ENSP00000493720.1:n.*1812T>C
ENST00000647013.1:c.3422T>C	ENSP00000496741.1:n.3422T>C
ENST00000647015.1:c.3167T>C	ENSP00000495389.1:p.Leu1056Pro
ENST00000647086.1:c.*3146T>C	ENSP00000493677.1:n.*3146T>C
ENST00000647158.1:c.*1557T>C	ENSP00000495744.1:n.*1557T>C
ENST00000302539.8:c.3419T>C	ENSP00000303960.4:p.Leu1140Pro
ENST00000389817.7:c.3416T>C	ENSP00000374467.3:p.Leu1139Pro
ENST00000524561.1:n.548T>C
ENST00000527905.5:c.*292T>C	ENSP00000431653.1:n.*292T>C
NM_000352.4:c.3416T>C	NP_000343.2:p.Leu1139Pro
NM_001287174.1:c.3419T>C	NP_001274103.1:p.Leu1140Pro
XM_011520331.1:c.3416T>C	XP_011518633.1:p.Leu1139Pro
XM_011520332.1:c.3419T>C	XP_011518634.1:p.Leu1140Pro
XM_011520333.1:c.1916T>C	XP_011518635.1:p.Leu639Pro
XR_930890.1:n.3482T>C
XR_930892.1:n.3382T>C
XR_930893.1:n.3379T>C
NM_001351295.1:c.3482T>C	NP_001338224.1:p.Leu1161Pro
NM_001351296.1:c.3416T>C	NP_001338225.1:p.Leu1139Pro
NM_001351297.1:c.3413T>C	NP_001338226.1:p.Leu1138Pro
NR_147094.1:n.3565T>C
XM_017018197.2:c.3485T>C	XP_016873686.1:p.Leu1162Pro
XM_017018199.1:c.3482T>C	XP_016873688.1:p.Leu1161Pro
XM_017018201.2:c.3485T>C	XP_016873690.1:p.Leu1162Pro
XM_017018202.1:c.1982T>C	XP_016873691.1:p.Leu661Pro
XM_017018204.1:c.1373T>C	XP_016873693.1:p.Leu458Pro
XM_024448668.1:c.1784T>C	XP_024304436.1:p.Leu595Pro
XR_001747945.2:n.3557T>C
XR_001747946.2:n.3488T>C
XR_002957189.1:n.3637T>C
NM_000352.6:c.3416T>C MANE Select	NP_000343.2:p.Leu1139Pro
NM_001287174.2:c.3419T>C	NP_001274103.1:p.Leu1140Pro
NM_001351295.2:c.3482T>C	NP_001338224.1:p.Leu1161Pro
NM_001351296.2:c.3416T>C	NP_001338225.1:p.Leu1139Pro
NM_001351297.2:c.3413T>C	NP_001338226.1:p.Leu1138Pro
NR_147094.2:n.3565T>C
NM_001287174.3:c.3419T>C	NP_001274103.1:p.Leu1140Pro