Canonical Allele Identifier: CA379805229

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17430003G>T (hg19) ; chr11:g.17408456G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408456G>T , CM000673.2:g.17408456G>T	GRCh38
NC_000011.9:g.17430003G>T , CM000673.1:g.17430003G>T	GRCh37
NC_000011.8:g.17386579G>T	NCBI36
NG_008867.1:g.73447C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2425C>A
ENST00000529967.6:n.1015C>A
ENST00000532220.2:n.488C>A
ENST00000642611.2:n.2825C>A
ENST00000682051.1:n.2772C>A
ENST00000682110.1:n.2825C>A
ENST00000682140.1:c.2753C>A	ENSP00000507829.1:p.Ser918Tyr
ENST00000682185.1:n.4061C>A
ENST00000682204.1:c.*894C>A	ENSP00000507094.1:n.*894C>A
ENST00000682215.1:n.2822C>A
ENST00000682288.1:c.*1187C>A	ENSP00000507506.1:n.*1187C>A
ENST00000682442.1:n.2946C>A
ENST00000682528.1:n.2822C>A
ENST00000682673.1:n.2769C>A
ENST00000682805.1:n.2822C>A
ENST00000682965.1:c.2753C>A	ENSP00000508229.1:p.Ser918Tyr
ENST00000683093.1:n.2924C>A
ENST00000683136.1:c.2753C>A	ENSP00000507768.1:p.Ser918Tyr
ENST00000683153.1:n.2981C>A
ENST00000683365.1:n.2927C>A
ENST00000683377.1:n.2825C>A
ENST00000683456.1:c.2756C>A	ENSP00000508318.1:p.Ser919Tyr
ENST00000683522.1:n.2825C>A
ENST00000683562.1:c.*925C>A	ENSP00000508265.1:n.*925C>A
ENST00000683693.1:n.2822C>A
ENST00000683725.1:c.2756C>A	ENSP00000507496.1:p.Ser919Tyr
ENST00000684010.1:n.2740C>A
ENST00000684157.1:n.2825C>A
ENST00000684253.1:n.2728C>A
ENST00000684288.1:c.*928C>A	ENSP00000507143.1:n.*928C>A
ENST00000684313.1:n.2257C>A
ENST00000684332.1:n.2898C>A
ENST00000684371.1:n.2931C>A
ENST00000684404.1:n.2822C>A
ENST00000684442.1:n.2825C>A
ENST00000684555.1:c.*968C>A	ENSP00000507705.1:n.*968C>A
ENST00000684571.1:c.2597C>A	ENSP00000506935.1:p.Ser866Tyr
ENST00000684593.1:c.*2461C>A	ENSP00000507005.1:n.*2461C>A
ENST00000684711.1:c.*1152C>A	ENSP00000506841.1:n.*1152C>A
ENST00000302539.9:c.2759C>A	ENSP00000303960.4:p.Ser920Tyr
ENST00000389817.8:c.2756C>A MANE Select	ENSP00000374467.4:p.Ser919Tyr
ENST00000642271.1:c.2753C>A	ENSP00000493749.1:p.Ser918Tyr
ENST00000642579.1:c.840C>A
ENST00000642611.1:n.2710C>A
ENST00000642902.1:c.2591C>A
ENST00000643260.1:c.2756C>A	ENSP00000494450.1:p.Ser919Tyr
ENST00000643562.1:c.*732C>A	ENSP00000496124.1:n.*732C>A
ENST00000643925.1:c.800C>A
ENST00000644447.1:c.1112C>A	ENSP00000496282.1:p.Ser371Tyr
ENST00000644472.1:c.*1117C>A	ENSP00000495378.1:n.*1117C>A
ENST00000644484.1:c.*965C>A	ENSP00000493558.1:n.*965C>A
ENST00000644542.1:c.*2461C>A	ENSP00000495532.1:n.*2461C>A
ENST00000644675.1:c.*928C>A	ENSP00000494567.1:n.*928C>A
ENST00000644757.1:c.*1061C>A	ENSP00000495085.1:n.*1061C>A
ENST00000644772.1:c.2822C>A	ENSP00000494321.1:p.Ser941Tyr
ENST00000645076.1:c.2008C>A
ENST00000645744.1:c.*1120C>A	ENSP00000494564.1:n.*1120C>A
ENST00000645760.1:c.3031C>A
ENST00000645884.1:c.2756C>A	ENSP00000495516.1:p.Ser919Tyr
ENST00000646003.1:c.*812C>A	ENSP00000495259.1:n.*812C>A
ENST00000646207.1:c.*1120C>A	ENSP00000495025.1:n.*1120C>A
ENST00000646276.1:c.*1029C>A	ENSP00000496070.1:n.*1029C>A
ENST00000646592.1:c.1982C>A
ENST00000646902.1:c.2753C>A	ENSP00000494101.1:p.Ser918Tyr
ENST00000646993.1:c.*1152C>A	ENSP00000493720.1:n.*1152C>A
ENST00000647013.1:c.2762C>A	ENSP00000496741.1:n.2762C>A
ENST00000647015.1:c.2507C>A	ENSP00000495389.1:p.Ser836Tyr
ENST00000647086.1:c.*2486C>A	ENSP00000493677.1:n.*2486C>A
ENST00000647158.1:c.*897C>A	ENSP00000495744.1:n.*897C>A
ENST00000302539.8:c.2759C>A	ENSP00000303960.4:p.Ser920Tyr
ENST00000389817.7:c.2756C>A	ENSP00000374467.3:p.Ser919Tyr
ENST00000526921.5:n.440C>A
ENST00000527905.5:c.2726C>A	ENSP00000431653.1:p.Ser909Tyr
ENST00000529967.5:n.425C>A
NM_000352.4:c.2756C>A	NP_000343.2:p.Ser919Tyr
NM_001287174.1:c.2759C>A	NP_001274103.1:p.Ser920Tyr
XM_011520331.1:c.2756C>A	XP_011518633.1:p.Ser919Tyr
XM_011520332.1:c.2759C>A	XP_011518634.1:p.Ser920Tyr
XM_011520333.1:c.1256C>A	XP_011518635.1:p.Ser419Tyr
XM_011520334.1:c.2759C>A	XP_011518636.1:p.Ser920Tyr
XR_930890.1:n.2822C>A
XR_930891.1:n.2822C>A
XR_930892.1:n.2822C>A
XR_930893.1:n.2819C>A
NM_001351295.1:c.2822C>A	NP_001338224.1:p.Ser941Tyr
NM_001351296.1:c.2756C>A	NP_001338225.1:p.Ser919Tyr
NM_001351297.1:c.2753C>A	NP_001338226.1:p.Ser918Tyr
NR_147094.1:n.2825C>A
XM_017018197.2:c.2825C>A	XP_016873686.1:p.Ser942Tyr
XM_017018199.1:c.2822C>A	XP_016873688.1:p.Ser941Tyr
XM_017018201.2:c.2825C>A	XP_016873690.1:p.Ser942Tyr
XM_017018202.1:c.1322C>A	XP_016873691.1:p.Ser441Tyr
XM_017018204.1:c.713C>A	XP_016873693.1:p.Ser238Tyr
XM_024448668.1:c.1124C>A	XP_024304436.1:p.Ser375Tyr
XR_001747945.2:n.2897C>A
XR_001747946.2:n.2828C>A
XR_002957189.1:n.2897C>A
NM_000352.6:c.2756C>A MANE Select	NP_000343.2:p.Ser919Tyr
NM_001287174.2:c.2759C>A	NP_001274103.1:p.Ser920Tyr
NM_001351295.2:c.2822C>A	NP_001338224.1:p.Ser941Tyr
NM_001351296.2:c.2756C>A	NP_001338225.1:p.Ser919Tyr
NM_001351297.2:c.2753C>A	NP_001338226.1:p.Ser918Tyr
NR_147094.2:n.2825C>A
NM_001287174.3:c.2759C>A	NP_001274103.1:p.Ser920Tyr