Canonical Allele Identifier: CA379806113

Gene: ABCC8

Linked Data

• dbSNP Id: rs1278667394
• gnomAD v2: 11-17432097-G-A
• gnomAD v3: 11-17410550-G-A
• gnomAD v4: 11-17410550-G-A
• MyVariant Identifiers: chr11:g.17432097G>A (hg19) ; chr11:g.17410550G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17410550G>A , CM000673.2:g.17410550G>A	GRCh38
NC_000011.9:g.17432097G>A , CM000673.1:g.17432097G>A	GRCh37
NC_000011.8:g.17388673G>A	NCBI36
NG_008867.1:g.71353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2329C>T
ENST00000529967.6:n.919C>T
ENST00000642611.2:n.2729C>T
ENST00000682051.1:n.2676C>T
ENST00000682110.1:n.2729C>T
ENST00000682140.1:c.2657C>T	ENSP00000507829.1:p.Thr886Ile
ENST00000682185.1:n.3965C>T
ENST00000682204.1:c.*798C>T	ENSP00000507094.1:n.*798C>T
ENST00000682215.1:n.2726C>T
ENST00000682288.1:c.*1091C>T	ENSP00000507506.1:n.*1091C>T
ENST00000682442.1:n.2850C>T
ENST00000682528.1:n.2726C>T
ENST00000682673.1:n.2673C>T
ENST00000682805.1:n.2726C>T
ENST00000682965.1:c.2657C>T	ENSP00000508229.1:p.Thr886Ile
ENST00000683093.1:n.2828C>T
ENST00000683136.1:c.2657C>T	ENSP00000507768.1:p.Thr886Ile
ENST00000683153.1:n.2885C>T
ENST00000683365.1:n.2831C>T
ENST00000683377.1:n.2729C>T
ENST00000683456.1:c.2660C>T	ENSP00000508318.1:p.Thr887Ile
ENST00000683522.1:n.2729C>T
ENST00000683562.1:c.*829C>T	ENSP00000508265.1:n.*829C>T
ENST00000683693.1:n.2726C>T
ENST00000683725.1:c.2660C>T	ENSP00000507496.1:p.Thr887Ile
ENST00000684010.1:n.2644C>T
ENST00000684157.1:n.2729C>T
ENST00000684253.1:n.2632C>T
ENST00000684288.1:c.*832C>T	ENSP00000507143.1:n.*832C>T
ENST00000684313.1:n.2161C>T
ENST00000684332.1:n.2802C>T
ENST00000684371.1:n.2835C>T
ENST00000684404.1:n.2726C>T
ENST00000684442.1:n.2729C>T
ENST00000684555.1:c.*872C>T	ENSP00000507705.1:n.*872C>T
ENST00000684571.1:c.2501C>T	ENSP00000506935.1:p.Thr834Ile
ENST00000684593.1:c.*2365C>T	ENSP00000507005.1:n.*2365C>T
ENST00000684711.1:c.*1056C>T	ENSP00000506841.1:n.*1056C>T
ENST00000302539.9:c.2663C>T	ENSP00000303960.4:p.Thr888Ile
ENST00000389817.8:c.2660C>T MANE Select	ENSP00000374467.4:p.Thr887Ile
ENST00000642271.1:c.2657C>T	ENSP00000493749.1:p.Thr886Ile
ENST00000642579.1:c.744C>T
ENST00000642611.1:n.2614C>T
ENST00000642902.1:c.2495C>T
ENST00000643260.1:c.2660C>T	ENSP00000494450.1:p.Thr887Ile
ENST00000643562.1:c.*636C>T	ENSP00000496124.1:n.*636C>T
ENST00000643925.1:c.704C>T
ENST00000644447.1:c.1016C>T	ENSP00000496282.1:p.Thr339Ile
ENST00000644472.1:c.*1021C>T	ENSP00000495378.1:n.*1021C>T
ENST00000644484.1:c.*869C>T	ENSP00000493558.1:n.*869C>T
ENST00000644542.1:c.*2365C>T	ENSP00000495532.1:n.*2365C>T
ENST00000644675.1:c.*832C>T	ENSP00000494567.1:n.*832C>T
ENST00000644757.1:c.*965C>T	ENSP00000495085.1:n.*965C>T
ENST00000644772.1:c.2726C>T	ENSP00000494321.1:p.Thr909Ile
ENST00000645076.1:c.1912C>T
ENST00000645744.1:c.*1024C>T	ENSP00000494564.1:n.*1024C>T
ENST00000645760.1:c.2935C>T
ENST00000645884.1:c.2660C>T	ENSP00000495516.1:p.Thr887Ile
ENST00000646003.1:c.*716C>T	ENSP00000495259.1:n.*716C>T
ENST00000646207.1:c.*1024C>T	ENSP00000495025.1:n.*1024C>T
ENST00000646276.1:c.*933C>T	ENSP00000496070.1:n.*933C>T
ENST00000646592.1:c.1886C>T
ENST00000646902.1:c.2657C>T	ENSP00000494101.1:p.Thr886Ile
ENST00000646993.1:c.*1056C>T	ENSP00000493720.1:n.*1056C>T
ENST00000647013.1:c.2666C>T	ENSP00000496741.1:n.2666C>T
ENST00000647015.1:c.2411C>T	ENSP00000495389.1:p.Thr804Ile
ENST00000647086.1:c.*2390C>T	ENSP00000493677.1:n.*2390C>T
ENST00000647158.1:c.*801C>T	ENSP00000495744.1:n.*801C>T
ENST00000302539.8:c.2663C>T	ENSP00000303960.4:p.Thr888Ile
ENST00000389817.7:c.2660C>T	ENSP00000374467.3:p.Thr887Ile
ENST00000526921.5:n.344C>T
ENST00000527905.5:c.2630C>T	ENSP00000431653.1:p.Thr877Ile
ENST00000529967.5:n.329C>T
ENST00000530147.5:n.243C>T
NM_000352.4:c.2660C>T	NP_000343.2:p.Thr887Ile
NM_001287174.1:c.2663C>T	NP_001274103.1:p.Thr888Ile
XM_011520331.1:c.2660C>T	XP_011518633.1:p.Thr887Ile
XM_011520332.1:c.2663C>T	XP_011518634.1:p.Thr888Ile
XM_011520333.1:c.1160C>T	XP_011518635.1:p.Thr387Ile
XM_011520334.1:c.2663C>T	XP_011518636.1:p.Thr888Ile
XR_930890.1:n.2726C>T
XR_930891.1:n.2726C>T
XR_930892.1:n.2726C>T
XR_930893.1:n.2723C>T
NM_001351295.1:c.2726C>T	NP_001338224.1:p.Thr909Ile
NM_001351296.1:c.2660C>T	NP_001338225.1:p.Thr887Ile
NM_001351297.1:c.2657C>T	NP_001338226.1:p.Thr886Ile
NR_147094.1:n.2729C>T
XM_017018197.2:c.2729C>T	XP_016873686.1:p.Thr910Ile
XM_017018199.1:c.2726C>T	XP_016873688.1:p.Thr909Ile
XM_017018201.2:c.2729C>T	XP_016873690.1:p.Thr910Ile
XM_017018202.1:c.1226C>T	XP_016873691.1:p.Thr409Ile
XM_017018204.1:c.617C>T	XP_016873693.1:p.Thr206Ile
XM_024448668.1:c.1028C>T	XP_024304436.1:p.Thr343Ile
XR_001747945.2:n.2801C>T
XR_001747946.2:n.2732C>T
XR_002957189.1:n.2801C>T
NM_000352.6:c.2660C>T MANE Select	NP_000343.2:p.Thr887Ile
NM_001287174.2:c.2663C>T	NP_001274103.1:p.Thr888Ile
NM_001351295.2:c.2726C>T	NP_001338224.1:p.Thr909Ile
NM_001351296.2:c.2660C>T	NP_001338225.1:p.Thr887Ile
NM_001351297.2:c.2657C>T	NP_001338226.1:p.Thr886Ile
NR_147094.2:n.2729C>T
NM_001287174.3:c.2663C>T	NP_001274103.1:p.Thr888Ile