Canonical Allele Identifier: CA379807460

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434244G>C (hg19) ; chr11:g.17412697G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412697G>C , CM000673.2:g.17412697G>C	GRCh38
NC_000011.9:g.17434244G>C , CM000673.1:g.17434244G>C	GRCh37
NC_000011.8:g.17390820G>C	NCBI36
NG_008867.1:g.69206C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2194C>G
ENST00000529967.6:n.784C>G
ENST00000642611.2:n.2594C>G
ENST00000682051.1:n.2541C>G
ENST00000682110.1:n.2594C>G
ENST00000682140.1:c.2522C>G	ENSP00000507829.1:p.Ala841Gly
ENST00000682185.1:n.3830C>G
ENST00000682204.1:c.*663C>G	ENSP00000507094.1:n.*663C>G
ENST00000682215.1:n.2591C>G
ENST00000682288.1:c.*956C>G	ENSP00000507506.1:n.*956C>G
ENST00000682442.1:n.2715C>G
ENST00000682528.1:n.2591C>G
ENST00000682673.1:n.2538C>G
ENST00000682805.1:n.2591C>G
ENST00000682965.1:c.2522C>G	ENSP00000508229.1:p.Ala841Gly
ENST00000683093.1:n.2693C>G
ENST00000683136.1:c.2522C>G	ENSP00000507768.1:p.Ala841Gly
ENST00000683153.1:n.2750C>G
ENST00000683365.1:n.2696C>G
ENST00000683377.1:n.2594C>G
ENST00000683456.1:c.2525C>G	ENSP00000508318.1:p.Ala842Gly
ENST00000683522.1:n.2594C>G
ENST00000683562.1:c.*694C>G	ENSP00000508265.1:n.*694C>G
ENST00000683693.1:n.2591C>G
ENST00000683725.1:c.2525C>G	ENSP00000507496.1:p.Ala842Gly
ENST00000684010.1:n.2509C>G
ENST00000684157.1:n.2594C>G
ENST00000684253.1:n.2497C>G
ENST00000684288.1:c.*697C>G	ENSP00000507143.1:n.*697C>G
ENST00000684313.1:n.2026C>G
ENST00000684332.1:n.2667C>G
ENST00000684371.1:n.2700C>G
ENST00000684404.1:n.2591C>G
ENST00000684442.1:n.2594C>G
ENST00000684555.1:c.*737C>G	ENSP00000507705.1:n.*737C>G
ENST00000684571.1:c.2366C>G	ENSP00000506935.1:p.Ala789Gly
ENST00000684593.1:c.*2230C>G	ENSP00000507005.1:n.*2230C>G
ENST00000684711.1:c.*921C>G	ENSP00000506841.1:n.*921C>G
ENST00000302539.9:c.2528C>G	ENSP00000303960.4:p.Ala843Gly
ENST00000389817.8:c.2525C>G MANE Select	ENSP00000374467.4:p.Ala842Gly
ENST00000642271.1:c.2522C>G	ENSP00000493749.1:p.Ala841Gly
ENST00000642579.1:c.609C>G
ENST00000642611.1:n.2479C>G
ENST00000642902.1:c.2360C>G
ENST00000643260.1:c.2525C>G	ENSP00000494450.1:p.Ala842Gly
ENST00000643562.1:c.*501C>G	ENSP00000496124.1:n.*501C>G
ENST00000643925.1:c.569C>G
ENST00000644447.1:c.881C>G	ENSP00000496282.1:p.Ala294Gly
ENST00000644472.1:c.*886C>G	ENSP00000495378.1:n.*886C>G
ENST00000644484.1:c.*734C>G	ENSP00000493558.1:n.*734C>G
ENST00000644542.1:c.*2230C>G	ENSP00000495532.1:n.*2230C>G
ENST00000644675.1:c.*697C>G	ENSP00000494567.1:n.*697C>G
ENST00000644757.1:c.*830C>G	ENSP00000495085.1:n.*830C>G
ENST00000644772.1:c.2591C>G	ENSP00000494321.1:p.Ala864Gly
ENST00000645076.1:c.1777C>G
ENST00000645744.1:c.*889C>G	ENSP00000494564.1:n.*889C>G
ENST00000645760.1:c.2800C>G
ENST00000645884.1:c.2525C>G	ENSP00000495516.1:p.Ala842Gly
ENST00000646003.1:c.*581C>G	ENSP00000495259.1:n.*581C>G
ENST00000646207.1:c.*889C>G	ENSP00000495025.1:n.*889C>G
ENST00000646276.1:c.*798C>G	ENSP00000496070.1:n.*798C>G
ENST00000646592.1:c.1751C>G
ENST00000646902.1:c.2522C>G	ENSP00000494101.1:p.Ala841Gly
ENST00000646993.1:c.*921C>G	ENSP00000493720.1:n.*921C>G
ENST00000647013.1:c.2531C>G	ENSP00000496741.1:n.2531C>G
ENST00000647015.1:c.2276C>G	ENSP00000495389.1:p.Ala759Gly
ENST00000647086.1:c.*2255C>G	ENSP00000493677.1:n.*2255C>G
ENST00000647158.1:c.*666C>G	ENSP00000495744.1:n.*666C>G
ENST00000302539.8:c.2528C>G	ENSP00000303960.4:p.Ala843Gly
ENST00000389817.7:c.2525C>G	ENSP00000374467.3:p.Ala842Gly
ENST00000526921.5:n.209C>G
ENST00000527905.5:c.2495C>G	ENSP00000431653.1:p.Ala832Gly
ENST00000529967.5:n.194C>G
ENST00000530147.5:n.108C>G
ENST00000531911.1:n.639C>G
NM_000352.4:c.2525C>G	NP_000343.2:p.Ala842Gly
NM_001287174.1:c.2528C>G	NP_001274103.1:p.Ala843Gly
XM_011520331.1:c.2525C>G	XP_011518633.1:p.Ala842Gly
XM_011520332.1:c.2528C>G	XP_011518634.1:p.Ala843Gly
XM_011520333.1:c.1025C>G	XP_011518635.1:p.Ala342Gly
XM_011520334.1:c.2528C>G	XP_011518636.1:p.Ala843Gly
XR_930890.1:n.2591C>G
XR_930891.1:n.2591C>G
XR_930892.1:n.2591C>G
XR_930893.1:n.2588C>G
NM_001351295.1:c.2591C>G	NP_001338224.1:p.Ala864Gly
NM_001351296.1:c.2525C>G	NP_001338225.1:p.Ala842Gly
NM_001351297.1:c.2522C>G	NP_001338226.1:p.Ala841Gly
NR_147094.1:n.2594C>G
XM_017018197.2:c.2594C>G	XP_016873686.1:p.Ala865Gly
XM_017018199.1:c.2591C>G	XP_016873688.1:p.Ala864Gly
XM_017018201.2:c.2594C>G	XP_016873690.1:p.Ala865Gly
XM_017018202.1:c.1091C>G	XP_016873691.1:p.Ala364Gly
XM_017018204.1:c.482C>G	XP_016873693.1:p.Ala161Gly
XM_024448668.1:c.893C>G	XP_024304436.1:p.Ala298Gly
XR_001747945.2:n.2666C>G
XR_001747946.2:n.2597C>G
XR_002957189.1:n.2666C>G
NM_000352.6:c.2525C>G MANE Select	NP_000343.2:p.Ala842Gly
NM_001287174.2:c.2528C>G	NP_001274103.1:p.Ala843Gly
NM_001351295.2:c.2591C>G	NP_001338224.1:p.Ala864Gly
NM_001351296.2:c.2525C>G	NP_001338225.1:p.Ala842Gly
NM_001351297.2:c.2522C>G	NP_001338226.1:p.Ala841Gly
NR_147094.2:n.2594C>G
NM_001287174.3:c.2528C>G	NP_001274103.1:p.Ala843Gly