Canonical Allele Identifier: CA379801534

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428218T>G (hg19) ; chr11:g.17406671T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406671T>G , CM000673.2:g.17406671T>G	GRCh38
NC_000011.9:g.17428218T>G , CM000673.1:g.17428218T>G	GRCh37
NC_000011.8:g.17384794T>G	NCBI36
NG_008867.1:g.75232A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2849A>C
ENST00000529967.6:n.1619A>C
ENST00000532220.2:n.1012A>C
ENST00000642611.2:n.3349A>C
ENST00000645004.2:n.779A>C
ENST00000682051.1:n.3296A>C
ENST00000682110.1:n.3349A>C
ENST00000682140.1:c.3277A>C	ENSP00000507829.1:p.Lys1093Gln
ENST00000682185.1:n.4585A>C
ENST00000682204.1:c.*1418A>C	ENSP00000507094.1:n.*1418A>C
ENST00000682215.1:n.3346A>C
ENST00000682288.1:c.*1711A>C	ENSP00000507506.1:n.*1711A>C
ENST00000682442.1:n.3569A>C
ENST00000682528.1:n.3426A>C
ENST00000682673.1:n.3293A>C
ENST00000682805.1:n.3346A>C
ENST00000682965.1:c.3277A>C	ENSP00000508229.1:p.Lys1093Gln
ENST00000683093.1:n.3448A>C
ENST00000683136.1:c.3277A>C	ENSP00000507768.1:p.Lys1093Gln
ENST00000683153.1:n.3505A>C
ENST00000683365.1:n.3451A>C
ENST00000683377.1:n.3349A>C
ENST00000683456.1:c.*417A>C	ENSP00000508318.1:n.*417A>C
ENST00000683522.1:n.3349A>C
ENST00000683562.1:c.*1449A>C	ENSP00000508265.1:n.*1449A>C
ENST00000683693.1:n.3426A>C
ENST00000683725.1:c.3280A>C	ENSP00000507496.1:p.Lys1094Gln
ENST00000684010.1:n.3344A>C
ENST00000684157.1:n.3349A>C
ENST00000684253.1:n.3252A>C
ENST00000684288.1:c.*1452A>C	ENSP00000507143.1:n.*1452A>C
ENST00000684313.1:n.2781A>C
ENST00000684332.1:n.3422A>C
ENST00000684371.1:n.3455A>C
ENST00000684404.1:n.3392A>C
ENST00000684442.1:n.3349A>C
ENST00000684555.1:c.*1492A>C	ENSP00000507705.1:n.*1492A>C
ENST00000684571.1:c.3121A>C	ENSP00000506935.1:p.Lys1041Gln
ENST00000684593.1:c.*2985A>C	ENSP00000507005.1:n.*2985A>C
ENST00000684711.1:c.*1676A>C	ENSP00000506841.1:n.*1676A>C
ENST00000302539.9:c.3283A>C	ENSP00000303960.4:p.Lys1095Gln
ENST00000389817.8:c.3280A>C MANE Select	ENSP00000374467.4:p.Lys1094Gln
ENST00000642271.1:c.3277A>C	ENSP00000493749.1:p.Lys1093Gln
ENST00000642579.1:c.1364A>C
ENST00000642611.1:n.3234A>C
ENST00000642902.1:c.3062A>C
ENST00000643260.1:c.3280A>C	ENSP00000494450.1:p.Lys1094Gln
ENST00000643562.1:c.*1256A>C	ENSP00000496124.1:n.*1256A>C
ENST00000643925.1:c.1404A>C
ENST00000644447.1:c.1636A>C	ENSP00000496282.1:p.Lys546Gln
ENST00000644484.1:c.*1535A>C	ENSP00000493558.1:n.*1535A>C
ENST00000644542.1:c.*3084A>C	ENSP00000495532.1:n.*3084A>C
ENST00000644675.1:c.*1452A>C	ENSP00000494567.1:n.*1452A>C
ENST00000644757.1:c.*1565A>C	ENSP00000495085.1:n.*1565A>C
ENST00000644772.1:c.3346A>C	ENSP00000494321.1:p.Lys1116Gln
ENST00000645004.1:n.419A>C
ENST00000645076.1:c.2479A>C
ENST00000645417.1:c.446A>C
ENST00000645744.1:c.*1544A>C	ENSP00000494564.1:n.*1544A>C
ENST00000645760.1:c.3555A>C
ENST00000645884.1:c.*417A>C	ENSP00000495516.1:n.*417A>C
ENST00000646003.1:c.*1236A>C	ENSP00000495259.1:n.*1236A>C
ENST00000646207.1:c.*1747A>C	ENSP00000495025.1:n.*1747A>C
ENST00000646276.1:c.*1553A>C	ENSP00000496070.1:n.*1553A>C
ENST00000646592.1:c.2586A>C
ENST00000646902.1:c.3277A>C	ENSP00000494101.1:p.Lys1093Gln
ENST00000646993.1:c.*1676A>C	ENSP00000493720.1:n.*1676A>C
ENST00000647013.1:c.3286A>C	ENSP00000496741.1:n.3286A>C
ENST00000647015.1:c.3031A>C	ENSP00000495389.1:p.Lys1011Gln
ENST00000647086.1:c.*3010A>C	ENSP00000493677.1:n.*3010A>C
ENST00000647158.1:c.*1421A>C	ENSP00000495744.1:n.*1421A>C
ENST00000302539.8:c.3283A>C	ENSP00000303960.4:p.Lys1095Gln
ENST00000389817.7:c.3280A>C	ENSP00000374467.3:p.Lys1094Gln
ENST00000524561.1:n.412A>C
ENST00000527905.5:c.*156A>C	ENSP00000431653.1:n.*156A>C
NM_000352.4:c.3280A>C	NP_000343.2:p.Lys1094Gln
NM_001287174.1:c.3283A>C	NP_001274103.1:p.Lys1095Gln
XM_011520331.1:c.3280A>C	XP_011518633.1:p.Lys1094Gln
XM_011520332.1:c.3283A>C	XP_011518634.1:p.Lys1095Gln
XM_011520333.1:c.1780A>C	XP_011518635.1:p.Lys594Gln
XR_930890.1:n.3346A>C
XR_930891.1:n.3346A>C
XR_930892.1:n.3246A>C
XR_930893.1:n.3243A>C
NM_001351295.1:c.3346A>C	NP_001338224.1:p.Lys1116Gln
NM_001351296.1:c.3280A>C	NP_001338225.1:p.Lys1094Gln
NM_001351297.1:c.3277A>C	NP_001338226.1:p.Lys1093Gln
NR_147094.1:n.3429A>C
XM_017018197.2:c.3349A>C	XP_016873686.1:p.Lys1117Gln
XM_017018199.1:c.3346A>C	XP_016873688.1:p.Lys1116Gln
XM_017018201.2:c.3349A>C	XP_016873690.1:p.Lys1117Gln
XM_017018202.1:c.1846A>C	XP_016873691.1:p.Lys616Gln
XM_017018204.1:c.1237A>C	XP_016873693.1:p.Lys413Gln
XM_024448668.1:c.1648A>C	XP_024304436.1:p.Lys550Gln
XR_001747945.2:n.3421A>C
XR_001747946.2:n.3352A>C
XR_002957189.1:n.3501A>C
NM_000352.6:c.3280A>C MANE Select	NP_000343.2:p.Lys1094Gln
NM_001287174.2:c.3283A>C	NP_001274103.1:p.Lys1095Gln
NM_001351295.2:c.3346A>C	NP_001338224.1:p.Lys1116Gln
NM_001351296.2:c.3280A>C	NP_001338225.1:p.Lys1094Gln
NM_001351297.2:c.3277A>C	NP_001338226.1:p.Lys1093Gln
NR_147094.2:n.3429A>C
NM_001287174.3:c.3283A>C	NP_001274103.1:p.Lys1095Gln