Canonical Allele Identifier: CA379802862

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428295G>C (hg19) ; chr11:g.17406748G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406748G>C , CM000673.2:g.17406748G>C	GRCh38
NC_000011.9:g.17428295G>C , CM000673.1:g.17428295G>C	GRCh37
NC_000011.8:g.17384871G>C	NCBI36
NG_008867.1:g.75155C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2772C>G
ENST00000529967.6:n.1542C>G
ENST00000532220.2:n.935C>G
ENST00000642611.2:n.3272C>G
ENST00000645004.2:n.702C>G
ENST00000682051.1:n.3219C>G
ENST00000682110.1:n.3272C>G
ENST00000682140.1:c.3200C>G	ENSP00000507829.1:p.Thr1067Arg
ENST00000682185.1:n.4508C>G
ENST00000682204.1:c.*1341C>G	ENSP00000507094.1:n.*1341C>G
ENST00000682215.1:n.3269C>G
ENST00000682288.1:c.*1634C>G	ENSP00000507506.1:n.*1634C>G
ENST00000682442.1:n.3492C>G
ENST00000682528.1:n.3349C>G
ENST00000682673.1:n.3216C>G
ENST00000682805.1:n.3269C>G
ENST00000682965.1:c.3200C>G	ENSP00000508229.1:p.Thr1067Arg
ENST00000683093.1:n.3371C>G
ENST00000683136.1:c.3200C>G	ENSP00000507768.1:p.Thr1067Arg
ENST00000683153.1:n.3428C>G
ENST00000683365.1:n.3374C>G
ENST00000683377.1:n.3272C>G
ENST00000683456.1:c.*340C>G	ENSP00000508318.1:n.*340C>G
ENST00000683522.1:n.3272C>G
ENST00000683562.1:c.*1372C>G	ENSP00000508265.1:n.*1372C>G
ENST00000683693.1:n.3349C>G
ENST00000683725.1:c.3203C>G	ENSP00000507496.1:p.Thr1068Arg
ENST00000684010.1:n.3267C>G
ENST00000684157.1:n.3272C>G
ENST00000684253.1:n.3175C>G
ENST00000684288.1:c.*1375C>G	ENSP00000507143.1:n.*1375C>G
ENST00000684313.1:n.2704C>G
ENST00000684332.1:n.3345C>G
ENST00000684371.1:n.3378C>G
ENST00000684404.1:n.3315C>G
ENST00000684442.1:n.3272C>G
ENST00000684555.1:c.*1415C>G	ENSP00000507705.1:n.*1415C>G
ENST00000684571.1:c.3044C>G	ENSP00000506935.1:p.Thr1015Arg
ENST00000684593.1:c.*2908C>G	ENSP00000507005.1:n.*2908C>G
ENST00000684711.1:c.*1599C>G	ENSP00000506841.1:n.*1599C>G
ENST00000302539.9:c.3206C>G	ENSP00000303960.4:p.Thr1069Arg
ENST00000389817.8:c.3203C>G MANE Select	ENSP00000374467.4:p.Thr1068Arg
ENST00000642271.1:c.3200C>G	ENSP00000493749.1:p.Thr1067Arg
ENST00000642579.1:c.1287C>G
ENST00000642611.1:n.3157C>G
ENST00000642902.1:c.2985C>G
ENST00000643260.1:c.3203C>G	ENSP00000494450.1:p.Thr1068Arg
ENST00000643562.1:c.*1179C>G	ENSP00000496124.1:n.*1179C>G
ENST00000643925.1:c.1327C>G
ENST00000644447.1:c.1559C>G	ENSP00000496282.1:p.Thr520Arg
ENST00000644484.1:c.*1458C>G	ENSP00000493558.1:n.*1458C>G
ENST00000644542.1:c.*3007C>G	ENSP00000495532.1:n.*3007C>G
ENST00000644675.1:c.*1375C>G	ENSP00000494567.1:n.*1375C>G
ENST00000644757.1:c.*1488C>G	ENSP00000495085.1:n.*1488C>G
ENST00000644772.1:c.3269C>G	ENSP00000494321.1:p.Thr1090Arg
ENST00000645004.1:n.342C>G
ENST00000645076.1:c.2402C>G
ENST00000645417.1:c.369C>G
ENST00000645744.1:c.*1467C>G	ENSP00000494564.1:n.*1467C>G
ENST00000645760.1:c.3478C>G
ENST00000645884.1:c.*340C>G	ENSP00000495516.1:n.*340C>G
ENST00000646003.1:c.*1159C>G	ENSP00000495259.1:n.*1159C>G
ENST00000646207.1:c.*1670C>G	ENSP00000495025.1:n.*1670C>G
ENST00000646276.1:c.*1476C>G	ENSP00000496070.1:n.*1476C>G
ENST00000646592.1:c.2509C>G
ENST00000646902.1:c.3200C>G	ENSP00000494101.1:p.Thr1067Arg
ENST00000646993.1:c.*1599C>G	ENSP00000493720.1:n.*1599C>G
ENST00000647013.1:c.3209C>G	ENSP00000496741.1:n.3209C>G
ENST00000647015.1:c.2954C>G	ENSP00000495389.1:p.Thr985Arg
ENST00000647086.1:c.*2933C>G	ENSP00000493677.1:n.*2933C>G
ENST00000647158.1:c.*1344C>G	ENSP00000495744.1:n.*1344C>G
ENST00000302539.8:c.3206C>G	ENSP00000303960.4:p.Thr1069Arg
ENST00000389817.7:c.3203C>G	ENSP00000374467.3:p.Thr1068Arg
ENST00000524561.1:n.335C>G
ENST00000526921.5:n.887C>G
ENST00000527905.5:c.*79C>G	ENSP00000431653.1:n.*79C>G
NM_000352.4:c.3203C>G	NP_000343.2:p.Thr1068Arg
NM_001287174.1:c.3206C>G	NP_001274103.1:p.Thr1069Arg
XM_011520331.1:c.3203C>G	XP_011518633.1:p.Thr1068Arg
XM_011520332.1:c.3206C>G	XP_011518634.1:p.Thr1069Arg
XM_011520333.1:c.1703C>G	XP_011518635.1:p.Thr568Arg
XR_930890.1:n.3269C>G
XR_930891.1:n.3269C>G
XR_930892.1:n.3169C>G
XR_930893.1:n.3166C>G
NM_001351295.1:c.3269C>G	NP_001338224.1:p.Thr1090Arg
NM_001351296.1:c.3203C>G	NP_001338225.1:p.Thr1068Arg
NM_001351297.1:c.3200C>G	NP_001338226.1:p.Thr1067Arg
NR_147094.1:n.3352C>G
XM_017018197.2:c.3272C>G	XP_016873686.1:p.Thr1091Arg
XM_017018199.1:c.3269C>G	XP_016873688.1:p.Thr1090Arg
XM_017018201.2:c.3272C>G	XP_016873690.1:p.Thr1091Arg
XM_017018202.1:c.1769C>G	XP_016873691.1:p.Thr590Arg
XM_017018204.1:c.1160C>G	XP_016873693.1:p.Thr387Arg
XM_024448668.1:c.1571C>G	XP_024304436.1:p.Thr524Arg
XR_001747945.2:n.3344C>G
XR_001747946.2:n.3275C>G
XR_002957189.1:n.3424C>G
NM_000352.6:c.3203C>G MANE Select	NP_000343.2:p.Thr1068Arg
NM_001287174.2:c.3206C>G	NP_001274103.1:p.Thr1069Arg
NM_001351295.2:c.3269C>G	NP_001338224.1:p.Thr1090Arg
NM_001351296.2:c.3203C>G	NP_001338225.1:p.Thr1068Arg
NM_001351297.2:c.3200C>G	NP_001338226.1:p.Thr1067Arg
NR_147094.2:n.3352C>G
NM_001287174.3:c.3206C>G	NP_001274103.1:p.Thr1069Arg