Canonical Allele Identifier: CA379807374

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434226T>G (hg19) ; chr11:g.17412679T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412679T>G , CM000673.2:g.17412679T>G	GRCh38
NC_000011.9:g.17434226T>G , CM000673.1:g.17434226T>G	GRCh37
NC_000011.8:g.17390802T>G	NCBI36
NG_008867.1:g.69224A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2212A>C
ENST00000529967.6:n.802A>C
ENST00000642611.2:n.2612A>C
ENST00000682051.1:n.2559A>C
ENST00000682110.1:n.2612A>C
ENST00000682140.1:c.2540A>C	ENSP00000507829.1:p.Asn847Thr
ENST00000682185.1:n.3848A>C
ENST00000682204.1:c.*681A>C	ENSP00000507094.1:n.*681A>C
ENST00000682215.1:n.2609A>C
ENST00000682288.1:c.*974A>C	ENSP00000507506.1:n.*974A>C
ENST00000682442.1:n.2733A>C
ENST00000682528.1:n.2609A>C
ENST00000682673.1:n.2556A>C
ENST00000682805.1:n.2609A>C
ENST00000682965.1:c.2540A>C	ENSP00000508229.1:p.Asn847Thr
ENST00000683093.1:n.2711A>C
ENST00000683136.1:c.2540A>C	ENSP00000507768.1:p.Asn847Thr
ENST00000683153.1:n.2768A>C
ENST00000683365.1:n.2714A>C
ENST00000683377.1:n.2612A>C
ENST00000683456.1:c.2543A>C	ENSP00000508318.1:p.Asn848Thr
ENST00000683522.1:n.2612A>C
ENST00000683562.1:c.*712A>C	ENSP00000508265.1:n.*712A>C
ENST00000683693.1:n.2609A>C
ENST00000683725.1:c.2543A>C	ENSP00000507496.1:p.Asn848Thr
ENST00000684010.1:n.2527A>C
ENST00000684157.1:n.2612A>C
ENST00000684253.1:n.2515A>C
ENST00000684288.1:c.*715A>C	ENSP00000507143.1:n.*715A>C
ENST00000684313.1:n.2044A>C
ENST00000684332.1:n.2685A>C
ENST00000684371.1:n.2718A>C
ENST00000684404.1:n.2609A>C
ENST00000684442.1:n.2612A>C
ENST00000684555.1:c.*755A>C	ENSP00000507705.1:n.*755A>C
ENST00000684571.1:c.2384A>C	ENSP00000506935.1:p.Asn795Thr
ENST00000684593.1:c.*2248A>C	ENSP00000507005.1:n.*2248A>C
ENST00000684711.1:c.*939A>C	ENSP00000506841.1:n.*939A>C
ENST00000302539.9:c.2546A>C	ENSP00000303960.4:p.Asn849Thr
ENST00000389817.8:c.2543A>C MANE Select	ENSP00000374467.4:p.Asn848Thr
ENST00000642271.1:c.2540A>C	ENSP00000493749.1:p.Asn847Thr
ENST00000642579.1:c.627A>C
ENST00000642611.1:n.2497A>C
ENST00000642902.1:c.2378A>C
ENST00000643260.1:c.2543A>C	ENSP00000494450.1:p.Asn848Thr
ENST00000643562.1:c.*519A>C	ENSP00000496124.1:n.*519A>C
ENST00000643925.1:c.587A>C
ENST00000644447.1:c.899A>C	ENSP00000496282.1:p.Asn300Thr
ENST00000644472.1:c.*904A>C	ENSP00000495378.1:n.*904A>C
ENST00000644484.1:c.*752A>C	ENSP00000493558.1:n.*752A>C
ENST00000644542.1:c.*2248A>C	ENSP00000495532.1:n.*2248A>C
ENST00000644675.1:c.*715A>C	ENSP00000494567.1:n.*715A>C
ENST00000644757.1:c.*848A>C	ENSP00000495085.1:n.*848A>C
ENST00000644772.1:c.2609A>C	ENSP00000494321.1:p.Asn870Thr
ENST00000645076.1:c.1795A>C
ENST00000645744.1:c.*907A>C	ENSP00000494564.1:n.*907A>C
ENST00000645760.1:c.2818A>C
ENST00000645884.1:c.2543A>C	ENSP00000495516.1:p.Asn848Thr
ENST00000646003.1:c.*599A>C	ENSP00000495259.1:n.*599A>C
ENST00000646207.1:c.*907A>C	ENSP00000495025.1:n.*907A>C
ENST00000646276.1:c.*816A>C	ENSP00000496070.1:n.*816A>C
ENST00000646592.1:c.1769A>C
ENST00000646902.1:c.2540A>C	ENSP00000494101.1:p.Asn847Thr
ENST00000646993.1:c.*939A>C	ENSP00000493720.1:n.*939A>C
ENST00000647013.1:c.2549A>C	ENSP00000496741.1:n.2549A>C
ENST00000647015.1:c.2294A>C	ENSP00000495389.1:p.Asn765Thr
ENST00000647086.1:c.*2273A>C	ENSP00000493677.1:n.*2273A>C
ENST00000647158.1:c.*684A>C	ENSP00000495744.1:n.*684A>C
ENST00000302539.8:c.2546A>C	ENSP00000303960.4:p.Asn849Thr
ENST00000389817.7:c.2543A>C	ENSP00000374467.3:p.Asn848Thr
ENST00000526921.5:n.227A>C
ENST00000527905.5:c.2513A>C	ENSP00000431653.1:p.Asn838Thr
ENST00000529967.5:n.212A>C
ENST00000530147.5:n.126A>C
ENST00000531911.1:n.657A>C
NM_000352.4:c.2543A>C	NP_000343.2:p.Asn848Thr
NM_001287174.1:c.2546A>C	NP_001274103.1:p.Asn849Thr
XM_011520331.1:c.2543A>C	XP_011518633.1:p.Asn848Thr
XM_011520332.1:c.2546A>C	XP_011518634.1:p.Asn849Thr
XM_011520333.1:c.1043A>C	XP_011518635.1:p.Asn348Thr
XM_011520334.1:c.2546A>C	XP_011518636.1:p.Asn849Thr
XR_930890.1:n.2609A>C
XR_930891.1:n.2609A>C
XR_930892.1:n.2609A>C
XR_930893.1:n.2606A>C
NM_001351295.1:c.2609A>C	NP_001338224.1:p.Asn870Thr
NM_001351296.1:c.2543A>C	NP_001338225.1:p.Asn848Thr
NM_001351297.1:c.2540A>C	NP_001338226.1:p.Asn847Thr
NR_147094.1:n.2612A>C
XM_017018197.2:c.2612A>C	XP_016873686.1:p.Asn871Thr
XM_017018199.1:c.2609A>C	XP_016873688.1:p.Asn870Thr
XM_017018201.2:c.2612A>C	XP_016873690.1:p.Asn871Thr
XM_017018202.1:c.1109A>C	XP_016873691.1:p.Asn370Thr
XM_017018204.1:c.500A>C	XP_016873693.1:p.Asn167Thr
XM_024448668.1:c.911A>C	XP_024304436.1:p.Asn304Thr
XR_001747945.2:n.2684A>C
XR_001747946.2:n.2615A>C
XR_002957189.1:n.2684A>C
NM_000352.6:c.2543A>C MANE Select	NP_000343.2:p.Asn848Thr
NM_001287174.2:c.2546A>C	NP_001274103.1:p.Asn849Thr
NM_001351295.2:c.2609A>C	NP_001338224.1:p.Asn870Thr
NM_001351296.2:c.2543A>C	NP_001338225.1:p.Asn848Thr
NM_001351297.2:c.2540A>C	NP_001338226.1:p.Asn847Thr
NR_147094.2:n.2612A>C
NM_001287174.3:c.2546A>C	NP_001274103.1:p.Asn849Thr