Canonical Allele Identifier: CA379807354

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434220A>T (hg19) ; chr11:g.17412673A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412673A>T , CM000673.2:g.17412673A>T	GRCh38
NC_000011.9:g.17434220A>T , CM000673.1:g.17434220A>T	GRCh37
NC_000011.8:g.17390796A>T	NCBI36
NG_008867.1:g.69230T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2218T>A
ENST00000529967.6:n.808T>A
ENST00000642611.2:n.2618T>A
ENST00000682051.1:n.2565T>A
ENST00000682110.1:n.2618T>A
ENST00000682140.1:c.2546T>A	ENSP00000507829.1:p.Val849Asp
ENST00000682185.1:n.3854T>A
ENST00000682204.1:c.*687T>A	ENSP00000507094.1:n.*687T>A
ENST00000682215.1:n.2615T>A
ENST00000682288.1:c.*980T>A	ENSP00000507506.1:n.*980T>A
ENST00000682442.1:n.2739T>A
ENST00000682528.1:n.2615T>A
ENST00000682673.1:n.2562T>A
ENST00000682805.1:n.2615T>A
ENST00000682965.1:c.2546T>A	ENSP00000508229.1:p.Val849Asp
ENST00000683093.1:n.2717T>A
ENST00000683136.1:c.2546T>A	ENSP00000507768.1:p.Val849Asp
ENST00000683153.1:n.2774T>A
ENST00000683365.1:n.2720T>A
ENST00000683377.1:n.2618T>A
ENST00000683456.1:c.2549T>A	ENSP00000508318.1:p.Val850Asp
ENST00000683522.1:n.2618T>A
ENST00000683562.1:c.*718T>A	ENSP00000508265.1:n.*718T>A
ENST00000683693.1:n.2615T>A
ENST00000683725.1:c.2549T>A	ENSP00000507496.1:p.Val850Asp
ENST00000684010.1:n.2533T>A
ENST00000684157.1:n.2618T>A
ENST00000684253.1:n.2521T>A
ENST00000684288.1:c.*721T>A	ENSP00000507143.1:n.*721T>A
ENST00000684313.1:n.2050T>A
ENST00000684332.1:n.2691T>A
ENST00000684371.1:n.2724T>A
ENST00000684404.1:n.2615T>A
ENST00000684442.1:n.2618T>A
ENST00000684555.1:c.*761T>A	ENSP00000507705.1:n.*761T>A
ENST00000684571.1:c.2390T>A	ENSP00000506935.1:p.Val797Asp
ENST00000684593.1:c.*2254T>A	ENSP00000507005.1:n.*2254T>A
ENST00000684711.1:c.*945T>A	ENSP00000506841.1:n.*945T>A
ENST00000302539.9:c.2552T>A	ENSP00000303960.4:p.Val851Asp
ENST00000389817.8:c.2549T>A MANE Select	ENSP00000374467.4:p.Val850Asp
ENST00000642271.1:c.2546T>A	ENSP00000493749.1:p.Val849Asp
ENST00000642579.1:c.633T>A
ENST00000642611.1:n.2503T>A
ENST00000642902.1:c.2384T>A
ENST00000643260.1:c.2549T>A	ENSP00000494450.1:p.Val850Asp
ENST00000643562.1:c.*525T>A	ENSP00000496124.1:n.*525T>A
ENST00000643925.1:c.593T>A
ENST00000644447.1:c.905T>A	ENSP00000496282.1:p.Val302Asp
ENST00000644472.1:c.*910T>A	ENSP00000495378.1:n.*910T>A
ENST00000644484.1:c.*758T>A	ENSP00000493558.1:n.*758T>A
ENST00000644542.1:c.*2254T>A	ENSP00000495532.1:n.*2254T>A
ENST00000644675.1:c.*721T>A	ENSP00000494567.1:n.*721T>A
ENST00000644757.1:c.*854T>A	ENSP00000495085.1:n.*854T>A
ENST00000644772.1:c.2615T>A	ENSP00000494321.1:p.Val872Asp
ENST00000645076.1:c.1801T>A
ENST00000645744.1:c.*913T>A	ENSP00000494564.1:n.*913T>A
ENST00000645760.1:c.2824T>A
ENST00000645884.1:c.2549T>A	ENSP00000495516.1:p.Val850Asp
ENST00000646003.1:c.*605T>A	ENSP00000495259.1:n.*605T>A
ENST00000646207.1:c.*913T>A	ENSP00000495025.1:n.*913T>A
ENST00000646276.1:c.*822T>A	ENSP00000496070.1:n.*822T>A
ENST00000646592.1:c.1775T>A
ENST00000646902.1:c.2546T>A	ENSP00000494101.1:p.Val849Asp
ENST00000646993.1:c.*945T>A	ENSP00000493720.1:n.*945T>A
ENST00000647013.1:c.2555T>A	ENSP00000496741.1:n.2555T>A
ENST00000647015.1:c.2300T>A	ENSP00000495389.1:p.Val767Asp
ENST00000647086.1:c.*2279T>A	ENSP00000493677.1:n.*2279T>A
ENST00000647158.1:c.*690T>A	ENSP00000495744.1:n.*690T>A
ENST00000302539.8:c.2552T>A	ENSP00000303960.4:p.Val851Asp
ENST00000389817.7:c.2549T>A	ENSP00000374467.3:p.Val850Asp
ENST00000526921.5:n.233T>A
ENST00000527905.5:c.2519T>A	ENSP00000431653.1:p.Val840Asp
ENST00000529967.5:n.218T>A
ENST00000530147.5:n.132T>A
ENST00000531911.1:n.663T>A
NM_000352.4:c.2549T>A	NP_000343.2:p.Val850Asp
NM_001287174.1:c.2552T>A	NP_001274103.1:p.Val851Asp
XM_011520331.1:c.2549T>A	XP_011518633.1:p.Val850Asp
XM_011520332.1:c.2552T>A	XP_011518634.1:p.Val851Asp
XM_011520333.1:c.1049T>A	XP_011518635.1:p.Val350Asp
XM_011520334.1:c.2552T>A	XP_011518636.1:p.Val851Asp
XR_930890.1:n.2615T>A
XR_930891.1:n.2615T>A
XR_930892.1:n.2615T>A
XR_930893.1:n.2612T>A
NM_001351295.1:c.2615T>A	NP_001338224.1:p.Val872Asp
NM_001351296.1:c.2549T>A	NP_001338225.1:p.Val850Asp
NM_001351297.1:c.2546T>A	NP_001338226.1:p.Val849Asp
NR_147094.1:n.2618T>A
XM_017018197.2:c.2618T>A	XP_016873686.1:p.Val873Asp
XM_017018199.1:c.2615T>A	XP_016873688.1:p.Val872Asp
XM_017018201.2:c.2618T>A	XP_016873690.1:p.Val873Asp
XM_017018202.1:c.1115T>A	XP_016873691.1:p.Val372Asp
XM_017018204.1:c.506T>A	XP_016873693.1:p.Val169Asp
XM_024448668.1:c.917T>A	XP_024304436.1:p.Val306Asp
XR_001747945.2:n.2690T>A
XR_001747946.2:n.2621T>A
XR_002957189.1:n.2690T>A
NM_000352.6:c.2549T>A MANE Select	NP_000343.2:p.Val850Asp
NM_001287174.2:c.2552T>A	NP_001274103.1:p.Val851Asp
NM_001351295.2:c.2615T>A	NP_001338224.1:p.Val872Asp
NM_001351296.2:c.2549T>A	NP_001338225.1:p.Val850Asp
NM_001351297.2:c.2546T>A	NP_001338226.1:p.Val849Asp
NR_147094.2:n.2618T>A
NM_001287174.3:c.2552T>A	NP_001274103.1:p.Val851Asp