Canonical Allele Identifier: CA379802856

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428292A>C (hg19) ; chr11:g.17406745A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406745A>C , CM000673.2:g.17406745A>C	GRCh38
NC_000011.9:g.17428292A>C , CM000673.1:g.17428292A>C	GRCh37
NC_000011.8:g.17384868A>C	NCBI36
NG_008867.1:g.75158T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2775T>G
ENST00000529967.6:n.1545T>G
ENST00000532220.2:n.938T>G
ENST00000642611.2:n.3275T>G
ENST00000645004.2:n.705T>G
ENST00000682051.1:n.3222T>G
ENST00000682110.1:n.3275T>G
ENST00000682140.1:c.3203T>G	ENSP00000507829.1:p.Val1068Gly
ENST00000682185.1:n.4511T>G
ENST00000682204.1:c.*1344T>G	ENSP00000507094.1:n.*1344T>G
ENST00000682215.1:n.3272T>G
ENST00000682288.1:c.*1637T>G	ENSP00000507506.1:n.*1637T>G
ENST00000682442.1:n.3495T>G
ENST00000682528.1:n.3352T>G
ENST00000682673.1:n.3219T>G
ENST00000682805.1:n.3272T>G
ENST00000682965.1:c.3203T>G	ENSP00000508229.1:p.Val1068Gly
ENST00000683093.1:n.3374T>G
ENST00000683136.1:c.3203T>G	ENSP00000507768.1:p.Val1068Gly
ENST00000683153.1:n.3431T>G
ENST00000683365.1:n.3377T>G
ENST00000683377.1:n.3275T>G
ENST00000683456.1:c.*343T>G	ENSP00000508318.1:n.*343T>G
ENST00000683522.1:n.3275T>G
ENST00000683562.1:c.*1375T>G	ENSP00000508265.1:n.*1375T>G
ENST00000683693.1:n.3352T>G
ENST00000683725.1:c.3206T>G	ENSP00000507496.1:p.Val1069Gly
ENST00000684010.1:n.3270T>G
ENST00000684157.1:n.3275T>G
ENST00000684253.1:n.3178T>G
ENST00000684288.1:c.*1378T>G	ENSP00000507143.1:n.*1378T>G
ENST00000684313.1:n.2707T>G
ENST00000684332.1:n.3348T>G
ENST00000684371.1:n.3381T>G
ENST00000684404.1:n.3318T>G
ENST00000684442.1:n.3275T>G
ENST00000684555.1:c.*1418T>G	ENSP00000507705.1:n.*1418T>G
ENST00000684571.1:c.3047T>G	ENSP00000506935.1:p.Val1016Gly
ENST00000684593.1:c.*2911T>G	ENSP00000507005.1:n.*2911T>G
ENST00000684711.1:c.*1602T>G	ENSP00000506841.1:n.*1602T>G
ENST00000302539.9:c.3209T>G	ENSP00000303960.4:p.Val1070Gly
ENST00000389817.8:c.3206T>G MANE Select	ENSP00000374467.4:p.Val1069Gly
ENST00000642271.1:c.3203T>G	ENSP00000493749.1:p.Val1068Gly
ENST00000642579.1:c.1290T>G
ENST00000642611.1:n.3160T>G
ENST00000642902.1:c.2988T>G
ENST00000643260.1:c.3206T>G	ENSP00000494450.1:p.Val1069Gly
ENST00000643562.1:c.*1182T>G	ENSP00000496124.1:n.*1182T>G
ENST00000643925.1:c.1330T>G
ENST00000644447.1:c.1562T>G	ENSP00000496282.1:p.Val521Gly
ENST00000644484.1:c.*1461T>G	ENSP00000493558.1:n.*1461T>G
ENST00000644542.1:c.*3010T>G	ENSP00000495532.1:n.*3010T>G
ENST00000644675.1:c.*1378T>G	ENSP00000494567.1:n.*1378T>G
ENST00000644757.1:c.*1491T>G	ENSP00000495085.1:n.*1491T>G
ENST00000644772.1:c.3272T>G	ENSP00000494321.1:p.Val1091Gly
ENST00000645004.1:n.345T>G
ENST00000645076.1:c.2405T>G
ENST00000645417.1:c.372T>G
ENST00000645744.1:c.*1470T>G	ENSP00000494564.1:n.*1470T>G
ENST00000645760.1:c.3481T>G
ENST00000645884.1:c.*343T>G	ENSP00000495516.1:n.*343T>G
ENST00000646003.1:c.*1162T>G	ENSP00000495259.1:n.*1162T>G
ENST00000646207.1:c.*1673T>G	ENSP00000495025.1:n.*1673T>G
ENST00000646276.1:c.*1479T>G	ENSP00000496070.1:n.*1479T>G
ENST00000646592.1:c.2512T>G
ENST00000646902.1:c.3203T>G	ENSP00000494101.1:p.Val1068Gly
ENST00000646993.1:c.*1602T>G	ENSP00000493720.1:n.*1602T>G
ENST00000647013.1:c.3212T>G	ENSP00000496741.1:n.3212T>G
ENST00000647015.1:c.2957T>G	ENSP00000495389.1:p.Val986Gly
ENST00000647086.1:c.*2936T>G	ENSP00000493677.1:n.*2936T>G
ENST00000647158.1:c.*1347T>G	ENSP00000495744.1:n.*1347T>G
ENST00000302539.8:c.3209T>G	ENSP00000303960.4:p.Val1070Gly
ENST00000389817.7:c.3206T>G	ENSP00000374467.3:p.Val1069Gly
ENST00000524561.1:n.338T>G
ENST00000526921.5:n.890T>G
ENST00000527905.5:c.*82T>G	ENSP00000431653.1:n.*82T>G
NM_000352.4:c.3206T>G	NP_000343.2:p.Val1069Gly
NM_001287174.1:c.3209T>G	NP_001274103.1:p.Val1070Gly
XM_011520331.1:c.3206T>G	XP_011518633.1:p.Val1069Gly
XM_011520332.1:c.3209T>G	XP_011518634.1:p.Val1070Gly
XM_011520333.1:c.1706T>G	XP_011518635.1:p.Val569Gly
XR_930890.1:n.3272T>G
XR_930891.1:n.3272T>G
XR_930892.1:n.3172T>G
XR_930893.1:n.3169T>G
NM_001351295.1:c.3272T>G	NP_001338224.1:p.Val1091Gly
NM_001351296.1:c.3206T>G	NP_001338225.1:p.Val1069Gly
NM_001351297.1:c.3203T>G	NP_001338226.1:p.Val1068Gly
NR_147094.1:n.3355T>G
XM_017018197.2:c.3275T>G	XP_016873686.1:p.Val1092Gly
XM_017018199.1:c.3272T>G	XP_016873688.1:p.Val1091Gly
XM_017018201.2:c.3275T>G	XP_016873690.1:p.Val1092Gly
XM_017018202.1:c.1772T>G	XP_016873691.1:p.Val591Gly
XM_017018204.1:c.1163T>G	XP_016873693.1:p.Val388Gly
XM_024448668.1:c.1574T>G	XP_024304436.1:p.Val525Gly
XR_001747945.2:n.3347T>G
XR_001747946.2:n.3278T>G
XR_002957189.1:n.3427T>G
NM_000352.6:c.3206T>G MANE Select	NP_000343.2:p.Val1069Gly
NM_001287174.2:c.3209T>G	NP_001274103.1:p.Val1070Gly
NM_001351295.2:c.3272T>G	NP_001338224.1:p.Val1091Gly
NM_001351296.2:c.3206T>G	NP_001338225.1:p.Val1069Gly
NM_001351297.2:c.3203T>G	NP_001338226.1:p.Val1068Gly
NR_147094.2:n.3355T>G
NM_001287174.3:c.3209T>G	NP_001274103.1:p.Val1070Gly