Canonical Allele Identifier: CA379807630

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17412727-C-A
• MyVariant Identifiers: chr11:g.17434274C>A (hg19) ; chr11:g.17412727C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412727C>A , CM000673.2:g.17412727C>A	GRCh38
NC_000011.9:g.17434274C>A , CM000673.1:g.17434274C>A	GRCh37
NC_000011.8:g.17390850C>A	NCBI36
NG_008867.1:g.69176G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2164G>T
ENST00000529967.6:n.754G>T
ENST00000642611.2:n.2564G>T
ENST00000682051.1:n.2511G>T
ENST00000682110.1:n.2564G>T
ENST00000682140.1:c.2492G>T	ENSP00000507829.1:p.Gly831Val
ENST00000682185.1:n.3800G>T
ENST00000682204.1:c.*633G>T	ENSP00000507094.1:n.*633G>T
ENST00000682215.1:n.2561G>T
ENST00000682288.1:c.*926G>T	ENSP00000507506.1:n.*926G>T
ENST00000682442.1:n.2685G>T
ENST00000682528.1:n.2561G>T
ENST00000682673.1:n.2508G>T
ENST00000682805.1:n.2561G>T
ENST00000682965.1:c.2492G>T	ENSP00000508229.1:p.Gly831Val
ENST00000683093.1:n.2663G>T
ENST00000683136.1:c.2492G>T	ENSP00000507768.1:p.Gly831Val
ENST00000683153.1:n.2720G>T
ENST00000683365.1:n.2666G>T
ENST00000683377.1:n.2564G>T
ENST00000683456.1:c.2495G>T	ENSP00000508318.1:p.Gly832Val
ENST00000683522.1:n.2564G>T
ENST00000683562.1:c.*664G>T	ENSP00000508265.1:n.*664G>T
ENST00000683693.1:n.2561G>T
ENST00000683725.1:c.2495G>T	ENSP00000507496.1:p.Gly832Val
ENST00000684010.1:n.2479G>T
ENST00000684157.1:n.2564G>T
ENST00000684253.1:n.2467G>T
ENST00000684288.1:c.*667G>T	ENSP00000507143.1:n.*667G>T
ENST00000684313.1:n.1996G>T
ENST00000684332.1:n.2637G>T
ENST00000684371.1:n.2670G>T
ENST00000684404.1:n.2561G>T
ENST00000684442.1:n.2564G>T
ENST00000684555.1:c.*707G>T	ENSP00000507705.1:n.*707G>T
ENST00000684571.1:c.2336G>T	ENSP00000506935.1:p.Gly779Val
ENST00000684593.1:c.*2200G>T	ENSP00000507005.1:n.*2200G>T
ENST00000684711.1:c.*891G>T	ENSP00000506841.1:n.*891G>T
ENST00000302539.9:c.2498G>T	ENSP00000303960.4:p.Gly833Val
ENST00000389817.8:c.2495G>T MANE Select	ENSP00000374467.4:p.Gly832Val
ENST00000642271.1:c.2492G>T	ENSP00000493749.1:p.Gly831Val
ENST00000642579.1:c.579G>T
ENST00000642611.1:n.2449G>T
ENST00000642902.1:c.2330G>T
ENST00000643260.1:c.2495G>T	ENSP00000494450.1:p.Gly832Val
ENST00000643562.1:c.*471G>T	ENSP00000496124.1:n.*471G>T
ENST00000643925.1:c.539G>T
ENST00000644447.1:c.851G>T	ENSP00000496282.1:p.Gly284Val
ENST00000644472.1:c.*856G>T	ENSP00000495378.1:n.*856G>T
ENST00000644484.1:c.*704G>T	ENSP00000493558.1:n.*704G>T
ENST00000644542.1:c.*2200G>T	ENSP00000495532.1:n.*2200G>T
ENST00000644675.1:c.*667G>T	ENSP00000494567.1:n.*667G>T
ENST00000644757.1:c.*800G>T	ENSP00000495085.1:n.*800G>T
ENST00000644772.1:c.2561G>T	ENSP00000494321.1:p.Gly854Val
ENST00000645076.1:c.1747G>T
ENST00000645744.1:c.*859G>T	ENSP00000494564.1:n.*859G>T
ENST00000645760.1:c.2770G>T
ENST00000645884.1:c.2495G>T	ENSP00000495516.1:p.Gly832Val
ENST00000646003.1:c.*551G>T	ENSP00000495259.1:n.*551G>T
ENST00000646207.1:c.*859G>T	ENSP00000495025.1:n.*859G>T
ENST00000646276.1:c.*768G>T	ENSP00000496070.1:n.*768G>T
ENST00000646592.1:c.1721G>T
ENST00000646902.1:c.2492G>T	ENSP00000494101.1:p.Gly831Val
ENST00000646993.1:c.*891G>T	ENSP00000493720.1:n.*891G>T
ENST00000647013.1:c.2501G>T	ENSP00000496741.1:n.2501G>T
ENST00000647015.1:c.2246G>T	ENSP00000495389.1:p.Gly749Val
ENST00000647086.1:c.*2225G>T	ENSP00000493677.1:n.*2225G>T
ENST00000647158.1:c.*636G>T	ENSP00000495744.1:n.*636G>T
ENST00000302539.8:c.2498G>T	ENSP00000303960.4:p.Gly833Val
ENST00000389817.7:c.2495G>T	ENSP00000374467.3:p.Gly832Val
ENST00000526921.5:n.179G>T
ENST00000527905.5:c.2465G>T	ENSP00000431653.1:p.Gly822Val
ENST00000529967.5:n.164G>T
ENST00000530147.5:n.78G>T
ENST00000531911.1:n.609G>T
NM_000352.4:c.2495G>T	NP_000343.2:p.Gly832Val
NM_001287174.1:c.2498G>T	NP_001274103.1:p.Gly833Val
XM_011520331.1:c.2495G>T	XP_011518633.1:p.Gly832Val
XM_011520332.1:c.2498G>T	XP_011518634.1:p.Gly833Val
XM_011520333.1:c.995G>T	XP_011518635.1:p.Gly332Val
XM_011520334.1:c.2498G>T	XP_011518636.1:p.Gly833Val
XR_930890.1:n.2561G>T
XR_930891.1:n.2561G>T
XR_930892.1:n.2561G>T
XR_930893.1:n.2558G>T
NM_001351295.1:c.2561G>T	NP_001338224.1:p.Gly854Val
NM_001351296.1:c.2495G>T	NP_001338225.1:p.Gly832Val
NM_001351297.1:c.2492G>T	NP_001338226.1:p.Gly831Val
NR_147094.1:n.2564G>T
XM_017018197.2:c.2564G>T	XP_016873686.1:p.Gly855Val
XM_017018199.1:c.2561G>T	XP_016873688.1:p.Gly854Val
XM_017018201.2:c.2564G>T	XP_016873690.1:p.Gly855Val
XM_017018202.1:c.1061G>T	XP_016873691.1:p.Gly354Val
XM_017018204.1:c.452G>T	XP_016873693.1:p.Gly151Val
XM_024448668.1:c.863G>T	XP_024304436.1:p.Gly288Val
XR_001747945.2:n.2636G>T
XR_001747946.2:n.2567G>T
XR_002957189.1:n.2636G>T
NM_000352.6:c.2495G>T MANE Select	NP_000343.2:p.Gly832Val
NM_001287174.2:c.2498G>T	NP_001274103.1:p.Gly833Val
NM_001351295.2:c.2561G>T	NP_001338224.1:p.Gly854Val
NM_001351296.2:c.2495G>T	NP_001338225.1:p.Gly832Val
NM_001351297.2:c.2492G>T	NP_001338226.1:p.Gly831Val
NR_147094.2:n.2564G>T
NM_001287174.3:c.2498G>T	NP_001274103.1:p.Gly833Val