Canonical Allele Identifier: CA379802996

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428328G>C (hg19) ; chr11:g.17406781G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406781G>C , CM000673.2:g.17406781G>C	GRCh38
NC_000011.9:g.17428328G>C , CM000673.1:g.17428328G>C	GRCh37
NC_000011.8:g.17384904G>C	NCBI36
NG_008867.1:g.75122C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2739C>G
ENST00000529967.6:n.1509C>G
ENST00000532220.2:n.902C>G
ENST00000642611.2:n.3239C>G
ENST00000645004.2:n.669C>G
ENST00000682051.1:n.3186C>G
ENST00000682110.1:n.3239C>G
ENST00000682140.1:c.3167C>G	ENSP00000507829.1:p.Thr1056Ser
ENST00000682185.1:n.4475C>G
ENST00000682204.1:c.*1308C>G	ENSP00000507094.1:n.*1308C>G
ENST00000682215.1:n.3236C>G
ENST00000682288.1:c.*1601C>G	ENSP00000507506.1:n.*1601C>G
ENST00000682442.1:n.3459C>G
ENST00000682528.1:n.3316C>G
ENST00000682673.1:n.3183C>G
ENST00000682805.1:n.3236C>G
ENST00000682965.1:c.3167C>G	ENSP00000508229.1:p.Thr1056Ser
ENST00000683093.1:n.3338C>G
ENST00000683136.1:c.3167C>G	ENSP00000507768.1:p.Thr1056Ser
ENST00000683153.1:n.3395C>G
ENST00000683365.1:n.3341C>G
ENST00000683377.1:n.3239C>G
ENST00000683456.1:c.*307C>G	ENSP00000508318.1:n.*307C>G
ENST00000683522.1:n.3239C>G
ENST00000683562.1:c.*1339C>G	ENSP00000508265.1:n.*1339C>G
ENST00000683693.1:n.3316C>G
ENST00000683725.1:c.3170C>G	ENSP00000507496.1:p.Thr1057Ser
ENST00000684010.1:n.3234C>G
ENST00000684157.1:n.3239C>G
ENST00000684253.1:n.3142C>G
ENST00000684288.1:c.*1342C>G	ENSP00000507143.1:n.*1342C>G
ENST00000684313.1:n.2671C>G
ENST00000684332.1:n.3312C>G
ENST00000684371.1:n.3345C>G
ENST00000684404.1:n.3282C>G
ENST00000684442.1:n.3239C>G
ENST00000684555.1:c.*1382C>G	ENSP00000507705.1:n.*1382C>G
ENST00000684571.1:c.3011C>G	ENSP00000506935.1:p.Thr1004Ser
ENST00000684593.1:c.*2875C>G	ENSP00000507005.1:n.*2875C>G
ENST00000684711.1:c.*1566C>G	ENSP00000506841.1:n.*1566C>G
ENST00000302539.9:c.3173C>G	ENSP00000303960.4:p.Thr1058Ser
ENST00000389817.8:c.3170C>G MANE Select	ENSP00000374467.4:p.Thr1057Ser
ENST00000642271.1:c.3167C>G	ENSP00000493749.1:p.Thr1056Ser
ENST00000642579.1:c.1254C>G
ENST00000642611.1:n.3124C>G
ENST00000642902.1:c.2952C>G
ENST00000643260.1:c.3170C>G	ENSP00000494450.1:p.Thr1057Ser
ENST00000643562.1:c.*1146C>G	ENSP00000496124.1:n.*1146C>G
ENST00000643925.1:c.1294C>G
ENST00000644447.1:c.1526C>G	ENSP00000496282.1:p.Thr509Ser
ENST00000644484.1:c.*1425C>G	ENSP00000493558.1:n.*1425C>G
ENST00000644542.1:c.*2974C>G	ENSP00000495532.1:n.*2974C>G
ENST00000644675.1:c.*1342C>G	ENSP00000494567.1:n.*1342C>G
ENST00000644757.1:c.*1455C>G	ENSP00000495085.1:n.*1455C>G
ENST00000644772.1:c.3236C>G	ENSP00000494321.1:p.Thr1079Ser
ENST00000645004.1:n.309C>G
ENST00000645076.1:c.2369C>G
ENST00000645417.1:c.336C>G
ENST00000645744.1:c.*1434C>G	ENSP00000494564.1:n.*1434C>G
ENST00000645760.1:c.3445C>G
ENST00000645884.1:c.*307C>G	ENSP00000495516.1:n.*307C>G
ENST00000646003.1:c.*1126C>G	ENSP00000495259.1:n.*1126C>G
ENST00000646207.1:c.*1637C>G	ENSP00000495025.1:n.*1637C>G
ENST00000646276.1:c.*1443C>G	ENSP00000496070.1:n.*1443C>G
ENST00000646592.1:c.2476C>G
ENST00000646902.1:c.3167C>G	ENSP00000494101.1:p.Thr1056Ser
ENST00000646993.1:c.*1566C>G	ENSP00000493720.1:n.*1566C>G
ENST00000647013.1:c.3176C>G	ENSP00000496741.1:n.3176C>G
ENST00000647015.1:c.2921C>G	ENSP00000495389.1:p.Thr974Ser
ENST00000647086.1:c.*2900C>G	ENSP00000493677.1:n.*2900C>G
ENST00000647158.1:c.*1311C>G	ENSP00000495744.1:n.*1311C>G
ENST00000302539.8:c.3173C>G	ENSP00000303960.4:p.Thr1058Ser
ENST00000389817.7:c.3170C>G	ENSP00000374467.3:p.Thr1057Ser
ENST00000524561.1:n.302C>G
ENST00000526921.5:n.854C>G
ENST00000527905.5:c.*46C>G	ENSP00000431653.1:n.*46C>G
NM_000352.4:c.3170C>G	NP_000343.2:p.Thr1057Ser
NM_001287174.1:c.3173C>G	NP_001274103.1:p.Thr1058Ser
XM_011520331.1:c.3170C>G	XP_011518633.1:p.Thr1057Ser
XM_011520332.1:c.3173C>G	XP_011518634.1:p.Thr1058Ser
XM_011520333.1:c.1670C>G	XP_011518635.1:p.Thr557Ser
XR_930890.1:n.3236C>G
XR_930891.1:n.3236C>G
XR_930892.1:n.3136C>G
XR_930893.1:n.3133C>G
NM_001351295.1:c.3236C>G	NP_001338224.1:p.Thr1079Ser
NM_001351296.1:c.3170C>G	NP_001338225.1:p.Thr1057Ser
NM_001351297.1:c.3167C>G	NP_001338226.1:p.Thr1056Ser
NR_147094.1:n.3319C>G
XM_017018197.2:c.3239C>G	XP_016873686.1:p.Thr1080Ser
XM_017018199.1:c.3236C>G	XP_016873688.1:p.Thr1079Ser
XM_017018201.2:c.3239C>G	XP_016873690.1:p.Thr1080Ser
XM_017018202.1:c.1736C>G	XP_016873691.1:p.Thr579Ser
XM_017018204.1:c.1127C>G	XP_016873693.1:p.Thr376Ser
XM_024448668.1:c.1538C>G	XP_024304436.1:p.Thr513Ser
XR_001747945.2:n.3311C>G
XR_001747946.2:n.3242C>G
XR_002957189.1:n.3391C>G
NM_000352.6:c.3170C>G MANE Select	NP_000343.2:p.Thr1057Ser
NM_001287174.2:c.3173C>G	NP_001274103.1:p.Thr1058Ser
NM_001351295.2:c.3236C>G	NP_001338224.1:p.Thr1079Ser
NM_001351296.2:c.3170C>G	NP_001338225.1:p.Thr1057Ser
NM_001351297.2:c.3167C>G	NP_001338226.1:p.Thr1056Ser
NR_147094.2:n.3319C>G
NM_001287174.3:c.3173C>G	NP_001274103.1:p.Thr1058Ser