Canonical Allele Identifier: CA379806480

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17432151T>C (hg19) ; chr11:g.17410604T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17410604T>C , CM000673.2:g.17410604T>C	GRCh38
NC_000011.9:g.17432151T>C , CM000673.1:g.17432151T>C	GRCh37
NC_000011.8:g.17388727T>C	NCBI36
NG_008867.1:g.71299A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2275A>G
ENST00000529967.6:n.865A>G
ENST00000642611.2:n.2675A>G
ENST00000682051.1:n.2622A>G
ENST00000682110.1:n.2675A>G
ENST00000682140.1:c.2603A>G	ENSP00000507829.1:p.Gln868Arg
ENST00000682185.1:n.3911A>G
ENST00000682204.1:c.*744A>G	ENSP00000507094.1:n.*744A>G
ENST00000682215.1:n.2672A>G
ENST00000682288.1:c.*1037A>G	ENSP00000507506.1:n.*1037A>G
ENST00000682442.1:n.2796A>G
ENST00000682528.1:n.2672A>G
ENST00000682673.1:n.2619A>G
ENST00000682805.1:n.2672A>G
ENST00000682965.1:c.2603A>G	ENSP00000508229.1:p.Gln868Arg
ENST00000683093.1:n.2774A>G
ENST00000683136.1:c.2603A>G	ENSP00000507768.1:p.Gln868Arg
ENST00000683153.1:n.2831A>G
ENST00000683365.1:n.2777A>G
ENST00000683377.1:n.2675A>G
ENST00000683456.1:c.2606A>G	ENSP00000508318.1:p.Gln869Arg
ENST00000683522.1:n.2675A>G
ENST00000683562.1:c.*775A>G	ENSP00000508265.1:n.*775A>G
ENST00000683693.1:n.2672A>G
ENST00000683725.1:c.2606A>G	ENSP00000507496.1:p.Gln869Arg
ENST00000684010.1:n.2590A>G
ENST00000684157.1:n.2675A>G
ENST00000684253.1:n.2578A>G
ENST00000684288.1:c.*778A>G	ENSP00000507143.1:n.*778A>G
ENST00000684313.1:n.2107A>G
ENST00000684332.1:n.2748A>G
ENST00000684371.1:n.2781A>G
ENST00000684404.1:n.2672A>G
ENST00000684442.1:n.2675A>G
ENST00000684555.1:c.*818A>G	ENSP00000507705.1:n.*818A>G
ENST00000684571.1:c.2447A>G	ENSP00000506935.1:p.Gln816Arg
ENST00000684593.1:c.*2311A>G	ENSP00000507005.1:n.*2311A>G
ENST00000684711.1:c.*1002A>G	ENSP00000506841.1:n.*1002A>G
ENST00000302539.9:c.2609A>G	ENSP00000303960.4:p.Gln870Arg
ENST00000389817.8:c.2606A>G MANE Select	ENSP00000374467.4:p.Gln869Arg
ENST00000642271.1:c.2603A>G	ENSP00000493749.1:p.Gln868Arg
ENST00000642579.1:c.690A>G
ENST00000642611.1:n.2560A>G
ENST00000642902.1:c.2441A>G
ENST00000643260.1:c.2606A>G	ENSP00000494450.1:p.Gln869Arg
ENST00000643562.1:c.*582A>G	ENSP00000496124.1:n.*582A>G
ENST00000643925.1:c.650A>G
ENST00000644447.1:c.962A>G	ENSP00000496282.1:p.Gln321Arg
ENST00000644472.1:c.*967A>G	ENSP00000495378.1:n.*967A>G
ENST00000644484.1:c.*815A>G	ENSP00000493558.1:n.*815A>G
ENST00000644542.1:c.*2311A>G	ENSP00000495532.1:n.*2311A>G
ENST00000644675.1:c.*778A>G	ENSP00000494567.1:n.*778A>G
ENST00000644757.1:c.*911A>G	ENSP00000495085.1:n.*911A>G
ENST00000644772.1:c.2672A>G	ENSP00000494321.1:p.Gln891Arg
ENST00000645076.1:c.1858A>G
ENST00000645744.1:c.*970A>G	ENSP00000494564.1:n.*970A>G
ENST00000645760.1:c.2881A>G
ENST00000645884.1:c.2606A>G	ENSP00000495516.1:p.Gln869Arg
ENST00000646003.1:c.*662A>G	ENSP00000495259.1:n.*662A>G
ENST00000646207.1:c.*970A>G	ENSP00000495025.1:n.*970A>G
ENST00000646276.1:c.*879A>G	ENSP00000496070.1:n.*879A>G
ENST00000646592.1:c.1832A>G
ENST00000646902.1:c.2603A>G	ENSP00000494101.1:p.Gln868Arg
ENST00000646993.1:c.*1002A>G	ENSP00000493720.1:n.*1002A>G
ENST00000647013.1:c.2612A>G	ENSP00000496741.1:n.2612A>G
ENST00000647015.1:c.2357A>G	ENSP00000495389.1:p.Gln786Arg
ENST00000647086.1:c.*2336A>G	ENSP00000493677.1:n.*2336A>G
ENST00000647158.1:c.*747A>G	ENSP00000495744.1:n.*747A>G
ENST00000302539.8:c.2609A>G	ENSP00000303960.4:p.Gln870Arg
ENST00000389817.7:c.2606A>G	ENSP00000374467.3:p.Gln869Arg
ENST00000526921.5:n.290A>G
ENST00000527905.5:c.2576A>G	ENSP00000431653.1:p.Gln859Arg
ENST00000529967.5:n.275A>G
ENST00000530147.5:n.189A>G
ENST00000531911.1:n.720A>G
NM_000352.4:c.2606A>G	NP_000343.2:p.Gln869Arg
NM_001287174.1:c.2609A>G	NP_001274103.1:p.Gln870Arg
XM_011520331.1:c.2606A>G	XP_011518633.1:p.Gln869Arg
XM_011520332.1:c.2609A>G	XP_011518634.1:p.Gln870Arg
XM_011520333.1:c.1106A>G	XP_011518635.1:p.Gln369Arg
XM_011520334.1:c.2609A>G	XP_011518636.1:p.Gln870Arg
XR_930890.1:n.2672A>G
XR_930891.1:n.2672A>G
XR_930892.1:n.2672A>G
XR_930893.1:n.2669A>G
NM_001351295.1:c.2672A>G	NP_001338224.1:p.Gln891Arg
NM_001351296.1:c.2606A>G	NP_001338225.1:p.Gln869Arg
NM_001351297.1:c.2603A>G	NP_001338226.1:p.Gln868Arg
NR_147094.1:n.2675A>G
XM_017018197.2:c.2675A>G	XP_016873686.1:p.Gln892Arg
XM_017018199.1:c.2672A>G	XP_016873688.1:p.Gln891Arg
XM_017018201.2:c.2675A>G	XP_016873690.1:p.Gln892Arg
XM_017018202.1:c.1172A>G	XP_016873691.1:p.Gln391Arg
XM_017018204.1:c.563A>G	XP_016873693.1:p.Gln188Arg
XM_024448668.1:c.974A>G	XP_024304436.1:p.Gln325Arg
XR_001747945.2:n.2747A>G
XR_001747946.2:n.2678A>G
XR_002957189.1:n.2747A>G
NM_000352.6:c.2606A>G MANE Select	NP_000343.2:p.Gln869Arg
NM_001287174.2:c.2609A>G	NP_001274103.1:p.Gln870Arg
NM_001351295.2:c.2672A>G	NP_001338224.1:p.Gln891Arg
NM_001351296.2:c.2606A>G	NP_001338225.1:p.Gln869Arg
NM_001351297.2:c.2603A>G	NP_001338226.1:p.Gln868Arg
NR_147094.2:n.2675A>G
NM_001287174.3:c.2609A>G	NP_001274103.1:p.Gln870Arg