Canonical Allele Identifier: CA473301263

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434255A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412708A>G , CM000673.2:g.17412708A>G	GRCh38
NC_000011.9:g.17434255A>G , CM000673.1:g.17434255A>G	GRCh37
NC_000011.8:g.17390831A>G	NCBI36
NG_008867.1:g.69195T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2183T>C
ENST00000529967.6:n.773T>C
ENST00000642611.2:n.2583T>C
ENST00000682051.1:n.2530T>C
ENST00000682110.1:n.2583T>C
ENST00000682140.1:c.2511T>C	ENSP00000507829.1:p.Ser837=
ENST00000682185.1:n.3819T>C
ENST00000682204.1:c.*652T>C	ENSP00000507094.1:n.*652T>C
ENST00000682215.1:n.2580T>C
ENST00000682288.1:c.*945T>C	ENSP00000507506.1:n.*945T>C
ENST00000682442.1:n.2704T>C
ENST00000682528.1:n.2580T>C
ENST00000682673.1:n.2527T>C
ENST00000682805.1:n.2580T>C
ENST00000682965.1:c.2511T>C	ENSP00000508229.1:p.Ser837=
ENST00000683093.1:n.2682T>C
ENST00000683136.1:c.2511T>C	ENSP00000507768.1:p.Ser837=
ENST00000683153.1:n.2739T>C
ENST00000683365.1:n.2685T>C
ENST00000683377.1:n.2583T>C
ENST00000683456.1:c.2514T>C	ENSP00000508318.1:p.Ser838=
ENST00000683522.1:n.2583T>C
ENST00000683562.1:c.*683T>C	ENSP00000508265.1:n.*683T>C
ENST00000683693.1:n.2580T>C
ENST00000683725.1:c.2514T>C	ENSP00000507496.1:p.Ser838=
ENST00000684010.1:n.2498T>C
ENST00000684157.1:n.2583T>C
ENST00000684253.1:n.2486T>C
ENST00000684288.1:c.*686T>C	ENSP00000507143.1:n.*686T>C
ENST00000684313.1:n.2015T>C
ENST00000684332.1:n.2656T>C
ENST00000684371.1:n.2689T>C
ENST00000684404.1:n.2580T>C
ENST00000684442.1:n.2583T>C
ENST00000684555.1:c.*726T>C	ENSP00000507705.1:n.*726T>C
ENST00000684571.1:c.2355T>C	ENSP00000506935.1:p.Ser785=
ENST00000684593.1:c.*2219T>C	ENSP00000507005.1:n.*2219T>C
ENST00000684711.1:c.*910T>C	ENSP00000506841.1:n.*910T>C
ENST00000302539.9:c.2517T>C	ENSP00000303960.4:p.Ser839=
ENST00000389817.8:c.2514T>C MANE Select	ENSP00000374467.4:p.Ser838=
ENST00000642271.1:c.2511T>C	ENSP00000493749.1:p.Ser837=
ENST00000642579.1:c.598T>C
ENST00000642611.1:n.2468T>C
ENST00000642902.1:c.2349T>C
ENST00000643260.1:c.2514T>C	ENSP00000494450.1:p.Ser838=
ENST00000643562.1:c.*490T>C	ENSP00000496124.1:n.*490T>C
ENST00000643925.1:c.558T>C
ENST00000644447.1:c.870T>C	ENSP00000496282.1:p.Ser290=
ENST00000644472.1:c.*875T>C	ENSP00000495378.1:n.*875T>C
ENST00000644484.1:c.*723T>C	ENSP00000493558.1:n.*723T>C
ENST00000644542.1:c.*2219T>C	ENSP00000495532.1:n.*2219T>C
ENST00000644675.1:c.*686T>C	ENSP00000494567.1:n.*686T>C
ENST00000644757.1:c.*819T>C	ENSP00000495085.1:n.*819T>C
ENST00000644772.1:c.2580T>C	ENSP00000494321.1:p.Ser860=
ENST00000645076.1:c.1766T>C
ENST00000645744.1:c.*878T>C	ENSP00000494564.1:n.*878T>C
ENST00000645760.1:c.2789T>C
ENST00000645884.1:c.2514T>C	ENSP00000495516.1:p.Ser838=
ENST00000646003.1:c.*570T>C	ENSP00000495259.1:n.*570T>C
ENST00000646207.1:c.*878T>C	ENSP00000495025.1:n.*878T>C
ENST00000646276.1:c.*787T>C	ENSP00000496070.1:n.*787T>C
ENST00000646592.1:c.1740T>C
ENST00000646902.1:c.2511T>C	ENSP00000494101.1:p.Ser837=
ENST00000646993.1:c.*910T>C	ENSP00000493720.1:n.*910T>C
ENST00000647013.1:c.2520T>C	ENSP00000496741.1:n.2520T>C
ENST00000647015.1:c.2265T>C	ENSP00000495389.1:p.Ser755=
ENST00000647086.1:c.*2244T>C	ENSP00000493677.1:n.*2244T>C
ENST00000647158.1:c.*655T>C	ENSP00000495744.1:n.*655T>C
ENST00000302539.8:c.2517T>C	ENSP00000303960.4:p.Ser839=
ENST00000389817.7:c.2514T>C	ENSP00000374467.3:p.Ser838=
ENST00000526921.5:n.198T>C
ENST00000527905.5:c.2484T>C	ENSP00000431653.1:p.Ser828=
ENST00000529967.5:n.183T>C
ENST00000530147.5:n.97T>C
ENST00000531911.1:n.628T>C
NM_000352.4:c.2514T>C	NP_000343.2:p.Ser838=
NM_001287174.1:c.2517T>C	NP_001274103.1:p.Ser839=
XM_011520331.1:c.2514T>C	XP_011518633.1:p.Ser838=
XM_011520332.1:c.2517T>C	XP_011518634.1:p.Ser839=
XM_011520333.1:c.1014T>C	XP_011518635.1:p.Ser338=
XM_011520334.1:c.2517T>C	XP_011518636.1:p.Ser839=
XR_930890.1:n.2580T>C
XR_930891.1:n.2580T>C
XR_930892.1:n.2580T>C
XR_930893.1:n.2577T>C
NM_001351295.1:c.2580T>C	NP_001338224.1:p.Ser860=
NM_001351296.1:c.2514T>C	NP_001338225.1:p.Ser838=
NM_001351297.1:c.2511T>C	NP_001338226.1:p.Ser837=
NR_147094.1:n.2583T>C
XM_017018197.2:c.2583T>C	XP_016873686.1:p.Ser861=
XM_017018199.1:c.2580T>C	XP_016873688.1:p.Ser860=
XM_017018201.2:c.2583T>C	XP_016873690.1:p.Ser861=
XM_017018202.1:c.1080T>C	XP_016873691.1:p.Ser360=
XM_017018204.1:c.471T>C	XP_016873693.1:p.Ser157=
XM_024448668.1:c.882T>C	XP_024304436.1:p.Ser294=
XR_001747945.2:n.2655T>C
XR_001747946.2:n.2586T>C
XR_002957189.1:n.2655T>C
NM_000352.6:c.2514T>C MANE Select	NP_000343.2:p.Ser838=
NM_001287174.2:c.2517T>C	NP_001274103.1:p.Ser839=
NM_001351295.2:c.2580T>C	NP_001338224.1:p.Ser860=
NM_001351296.2:c.2514T>C	NP_001338225.1:p.Ser838=
NM_001351297.2:c.2511T>C	NP_001338226.1:p.Ser837=
NR_147094.2:n.2583T>C
NM_001287174.3:c.2517T>C	NP_001274103.1:p.Ser839=