Canonical Allele Identifier: CA379799672

Gene: ABCC8

Linked Data

• dbSNP Id: rs1293731118
• gnomAD v2: 11-17426212-A-G
• gnomAD v4: 11-17404665-A-G
• MyVariant Identifiers: chr11:g.17426212A>G (hg19) ; chr11:g.17404665A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404665A>G , CM000673.2:g.17404665A>G	GRCh38
NC_000011.9:g.17426212A>G , CM000673.1:g.17426212A>G	GRCh37
NC_000011.8:g.17382788A>G	NCBI36
NG_008867.1:g.77238T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2973T>C
ENST00000529967.6:n.1743T>C
ENST00000532220.2:n.1136T>C
ENST00000642611.2:n.3473T>C
ENST00000645004.2:n.903T>C
ENST00000682051.1:n.3420T>C
ENST00000682110.1:n.3473T>C
ENST00000682140.1:c.3401T>C	ENSP00000507829.1:p.Ile1134Thr
ENST00000682185.1:n.4709T>C
ENST00000682204.1:c.*1542T>C	ENSP00000507094.1:n.*1542T>C
ENST00000682215.1:n.3470T>C
ENST00000682288.1:c.*1835T>C	ENSP00000507506.1:n.*1835T>C
ENST00000682442.1:n.3693T>C
ENST00000682528.1:n.3550T>C
ENST00000682673.1:n.3417T>C
ENST00000682805.1:n.3470T>C
ENST00000682965.1:c.3396+829T>C	ENSP00000508229.1:n.3396+829T>C
ENST00000683093.1:n.3572T>C
ENST00000683136.1:c.3401T>C	ENSP00000507768.1:p.Ile1134Thr
ENST00000683153.1:n.3629T>C
ENST00000683365.1:n.3575T>C
ENST00000683377.1:n.3473T>C
ENST00000683456.1:c.*541T>C	ENSP00000508318.1:n.*541T>C
ENST00000683522.1:n.3473T>C
ENST00000683562.1:c.*1573T>C	ENSP00000508265.1:n.*1573T>C
ENST00000683693.1:n.3550T>C
ENST00000683725.1:c.3404T>C	ENSP00000507496.1:p.Ile1135Thr
ENST00000684010.1:n.3468T>C
ENST00000684157.1:n.3473T>C
ENST00000684253.1:n.3376T>C
ENST00000684288.1:c.*1576T>C	ENSP00000507143.1:n.*1576T>C
ENST00000684313.1:n.2905T>C
ENST00000684332.1:n.3546T>C
ENST00000684371.1:n.3579T>C
ENST00000684404.1:n.3516T>C
ENST00000684442.1:n.3473T>C
ENST00000684555.1:c.*1616T>C	ENSP00000507705.1:n.*1616T>C
ENST00000684571.1:c.3245T>C	ENSP00000506935.1:p.Ile1082Thr
ENST00000684593.1:c.*3109T>C	ENSP00000507005.1:n.*3109T>C
ENST00000684711.1:c.*1800T>C	ENSP00000506841.1:n.*1800T>C
ENST00000302539.9:c.3407T>C	ENSP00000303960.4:p.Ile1136Thr
ENST00000389817.8:c.3404T>C MANE Select	ENSP00000374467.4:p.Ile1135Thr
ENST00000642271.1:c.3401T>C	ENSP00000493749.1:p.Ile1134Thr
ENST00000642579.1:c.1488T>C
ENST00000642611.1:n.3358T>C
ENST00000642902.1:c.3186T>C
ENST00000643260.1:c.3404T>C	ENSP00000494450.1:p.Ile1135Thr
ENST00000643562.1:c.*1380T>C	ENSP00000496124.1:n.*1380T>C
ENST00000643925.1:c.1528T>C
ENST00000644447.1:c.1760T>C	ENSP00000496282.1:p.Ile587Thr
ENST00000644484.1:c.*1659T>C	ENSP00000493558.1:n.*1659T>C
ENST00000644675.1:c.*1576T>C	ENSP00000494567.1:n.*1576T>C
ENST00000644757.1:c.*1689T>C	ENSP00000495085.1:n.*1689T>C
ENST00000644772.1:c.3470T>C	ENSP00000494321.1:p.Ile1157Thr
ENST00000645004.1:n.543T>C
ENST00000645076.1:c.2603T>C
ENST00000645417.1:c.570T>C
ENST00000645744.1:c.*1668T>C	ENSP00000494564.1:n.*1668T>C
ENST00000645760.1:c.3679T>C
ENST00000645884.1:c.*541T>C	ENSP00000495516.1:n.*541T>C
ENST00000646003.1:c.*1360T>C	ENSP00000495259.1:n.*1360T>C
ENST00000646207.1:c.*1871T>C	ENSP00000495025.1:n.*1871T>C
ENST00000646276.1:c.*1677T>C	ENSP00000496070.1:n.*1677T>C
ENST00000646592.1:c.2710T>C
ENST00000646902.1:c.3401T>C	ENSP00000494101.1:p.Ile1134Thr
ENST00000646993.1:c.*1800T>C	ENSP00000493720.1:n.*1800T>C
ENST00000647013.1:c.3410T>C	ENSP00000496741.1:n.3410T>C
ENST00000647015.1:c.3155T>C	ENSP00000495389.1:p.Ile1052Thr
ENST00000647086.1:c.*3134T>C	ENSP00000493677.1:n.*3134T>C
ENST00000647158.1:c.*1545T>C	ENSP00000495744.1:n.*1545T>C
ENST00000302539.8:c.3407T>C	ENSP00000303960.4:p.Ile1136Thr
ENST00000389817.7:c.3404T>C	ENSP00000374467.3:p.Ile1135Thr
ENST00000524561.1:n.536T>C
ENST00000527905.5:c.*280T>C	ENSP00000431653.1:n.*280T>C
NM_000352.4:c.3404T>C	NP_000343.2:p.Ile1135Thr
NM_001287174.1:c.3407T>C	NP_001274103.1:p.Ile1136Thr
XM_011520331.1:c.3404T>C	XP_011518633.1:p.Ile1135Thr
XM_011520332.1:c.3407T>C	XP_011518634.1:p.Ile1136Thr
XM_011520333.1:c.1904T>C	XP_011518635.1:p.Ile635Thr
XR_930890.1:n.3470T>C
XR_930891.1:n.3471T>C
XR_930892.1:n.3370T>C
XR_930893.1:n.3367T>C
NM_001351295.1:c.3470T>C	NP_001338224.1:p.Ile1157Thr
NM_001351296.1:c.3404T>C	NP_001338225.1:p.Ile1135Thr
NM_001351297.1:c.3401T>C	NP_001338226.1:p.Ile1134Thr
NR_147094.1:n.3553T>C
XM_017018197.2:c.3473T>C	XP_016873686.1:p.Ile1158Thr
XM_017018199.1:c.3470T>C	XP_016873688.1:p.Ile1157Thr
XM_017018201.2:c.3473T>C	XP_016873690.1:p.Ile1158Thr
XM_017018202.1:c.1970T>C	XP_016873691.1:p.Ile657Thr
XM_017018204.1:c.1361T>C	XP_016873693.1:p.Ile454Thr
XM_024448668.1:c.1772T>C	XP_024304436.1:p.Ile591Thr
XR_001747945.2:n.3545T>C
XR_001747946.2:n.3476T>C
XR_002957189.1:n.3625T>C
NM_000352.6:c.3404T>C MANE Select	NP_000343.2:p.Ile1135Thr
NM_001287174.2:c.3407T>C	NP_001274103.1:p.Ile1136Thr
NM_001351295.2:c.3470T>C	NP_001338224.1:p.Ile1157Thr
NM_001351296.2:c.3404T>C	NP_001338225.1:p.Ile1135Thr
NM_001351297.2:c.3401T>C	NP_001338226.1:p.Ile1134Thr
NR_147094.2:n.3553T>C
NM_001287174.3:c.3407T>C	NP_001274103.1:p.Ile1136Thr