Canonical Allele Identifier: CA379805137

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429991A>C (hg19) ; chr11:g.17408444A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408444A>C , CM000673.2:g.17408444A>C	GRCh38
NC_000011.9:g.17429991A>C , CM000673.1:g.17429991A>C	GRCh37
NC_000011.8:g.17386567A>C	NCBI36
NG_008867.1:g.73459T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.2437T>G
ENST00000529967.6:n.1027T>G
ENST00000532220.2:n.500T>G
ENST00000642611.2:n.2837T>G
ENST00000682051.1:n.2784T>G
ENST00000682110.1:n.2837T>G
ENST00000682140.1:c.2765T>G	ENSP00000507829.1:p.Leu922Arg
ENST00000682185.1:n.4073T>G
ENST00000682204.1:c.*906T>G	ENSP00000507094.1:n.*906T>G
ENST00000682215.1:n.2834T>G
ENST00000682288.1:c.*1199T>G	ENSP00000507506.1:n.*1199T>G
ENST00000682442.1:n.2958T>G
ENST00000682528.1:n.2834T>G
ENST00000682673.1:n.2781T>G
ENST00000682805.1:n.2834T>G
ENST00000682965.1:c.2765T>G	ENSP00000508229.1:p.Leu922Arg
ENST00000683093.1:n.2936T>G
ENST00000683136.1:c.2765T>G	ENSP00000507768.1:p.Leu922Arg
ENST00000683153.1:n.2993T>G
ENST00000683365.1:n.2939T>G
ENST00000683377.1:n.2837T>G
ENST00000683456.1:c.2768T>G	ENSP00000508318.1:p.Leu923Arg
ENST00000683522.1:n.2837T>G
ENST00000683562.1:c.*937T>G	ENSP00000508265.1:n.*937T>G
ENST00000683693.1:n.2834T>G
ENST00000683725.1:c.2768T>G	ENSP00000507496.1:p.Leu923Arg
ENST00000684010.1:n.2752T>G
ENST00000684157.1:n.2837T>G
ENST00000684253.1:n.2740T>G
ENST00000684288.1:c.*940T>G	ENSP00000507143.1:n.*940T>G
ENST00000684313.1:n.2269T>G
ENST00000684332.1:n.2910T>G
ENST00000684371.1:n.2943T>G
ENST00000684404.1:n.2834T>G
ENST00000684442.1:n.2837T>G
ENST00000684555.1:c.*980T>G	ENSP00000507705.1:n.*980T>G
ENST00000684571.1:c.2609T>G	ENSP00000506935.1:p.Leu870Arg
ENST00000684593.1:c.*2473T>G	ENSP00000507005.1:n.*2473T>G
ENST00000684711.1:c.*1164T>G	ENSP00000506841.1:n.*1164T>G
ENST00000302539.9:c.2771T>G	ENSP00000303960.4:p.Leu924Arg
ENST00000389817.8:c.2768T>G MANE Select	ENSP00000374467.4:p.Leu923Arg
ENST00000642271.1:c.2765T>G	ENSP00000493749.1:p.Leu922Arg
ENST00000642579.1:c.852T>G
ENST00000642611.1:n.2722T>G
ENST00000642902.1:c.2603T>G
ENST00000643260.1:c.2768T>G	ENSP00000494450.1:p.Leu923Arg
ENST00000643562.1:c.*744T>G	ENSP00000496124.1:n.*744T>G
ENST00000643925.1:c.812T>G
ENST00000644447.1:c.1124T>G	ENSP00000496282.1:p.Leu375Arg
ENST00000644472.1:c.*1129T>G	ENSP00000495378.1:n.*1129T>G
ENST00000644484.1:c.*977T>G	ENSP00000493558.1:n.*977T>G
ENST00000644542.1:c.*2473T>G	ENSP00000495532.1:n.*2473T>G
ENST00000644675.1:c.*940T>G	ENSP00000494567.1:n.*940T>G
ENST00000644757.1:c.*1073T>G	ENSP00000495085.1:n.*1073T>G
ENST00000644772.1:c.2834T>G	ENSP00000494321.1:p.Leu945Arg
ENST00000645076.1:c.2020T>G
ENST00000645744.1:c.*1132T>G	ENSP00000494564.1:n.*1132T>G
ENST00000645760.1:c.3043T>G
ENST00000645884.1:c.2768T>G	ENSP00000495516.1:p.Leu923Arg
ENST00000646003.1:c.*824T>G	ENSP00000495259.1:n.*824T>G
ENST00000646207.1:c.*1132T>G	ENSP00000495025.1:n.*1132T>G
ENST00000646276.1:c.*1041T>G	ENSP00000496070.1:n.*1041T>G
ENST00000646592.1:c.1994T>G
ENST00000646902.1:c.2765T>G	ENSP00000494101.1:p.Leu922Arg
ENST00000646993.1:c.*1164T>G	ENSP00000493720.1:n.*1164T>G
ENST00000647013.1:c.2774T>G	ENSP00000496741.1:n.2774T>G
ENST00000647015.1:c.2519T>G	ENSP00000495389.1:p.Leu840Arg
ENST00000647086.1:c.*2498T>G	ENSP00000493677.1:n.*2498T>G
ENST00000647158.1:c.*909T>G	ENSP00000495744.1:n.*909T>G
ENST00000302539.8:c.2771T>G	ENSP00000303960.4:p.Leu924Arg
ENST00000389817.7:c.2768T>G	ENSP00000374467.3:p.Leu923Arg
ENST00000526921.5:n.452T>G
ENST00000527905.5:c.2738T>G	ENSP00000431653.1:p.Leu913Arg
ENST00000529967.5:n.437T>G
NM_000352.4:c.2768T>G	NP_000343.2:p.Leu923Arg
NM_001287174.1:c.2771T>G	NP_001274103.1:p.Leu924Arg
XM_011520331.1:c.2768T>G	XP_011518633.1:p.Leu923Arg
XM_011520332.1:c.2771T>G	XP_011518634.1:p.Leu924Arg
XM_011520333.1:c.1268T>G	XP_011518635.1:p.Leu423Arg
XM_011520334.1:c.2771T>G	XP_011518636.1:p.Leu924Arg
XR_930890.1:n.2834T>G
XR_930891.1:n.2834T>G
XR_930892.1:n.2834T>G
XR_930893.1:n.2831T>G
NM_001351295.1:c.2834T>G	NP_001338224.1:p.Leu945Arg
NM_001351296.1:c.2768T>G	NP_001338225.1:p.Leu923Arg
NM_001351297.1:c.2765T>G	NP_001338226.1:p.Leu922Arg
NR_147094.1:n.2837T>G
XM_017018197.2:c.2837T>G	XP_016873686.1:p.Leu946Arg
XM_017018199.1:c.2834T>G	XP_016873688.1:p.Leu945Arg
XM_017018201.2:c.2837T>G	XP_016873690.1:p.Leu946Arg
XM_017018202.1:c.1334T>G	XP_016873691.1:p.Leu445Arg
XM_017018204.1:c.725T>G	XP_016873693.1:p.Leu242Arg
XM_024448668.1:c.1136T>G	XP_024304436.1:p.Leu379Arg
XR_001747945.2:n.2909T>G
XR_001747946.2:n.2840T>G
XR_002957189.1:n.2909T>G
NM_000352.6:c.2768T>G MANE Select	NP_000343.2:p.Leu923Arg
NM_001287174.2:c.2771T>G	NP_001274103.1:p.Leu924Arg
NM_001351295.2:c.2834T>G	NP_001338224.1:p.Leu945Arg
NM_001351296.2:c.2768T>G	NP_001338225.1:p.Leu923Arg
NM_001351297.2:c.2765T>G	NP_001338226.1:p.Leu922Arg
NR_147094.2:n.2837T>G
NM_001287174.3:c.2771T>G	NP_001274103.1:p.Leu924Arg