Canonical Allele Identifier: CA379807439

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434238T>G (hg19) ; chr11:g.17412691T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412691T>G , CM000673.2:g.17412691T>G	GRCh38
NC_000011.9:g.17434238T>G , CM000673.1:g.17434238T>G	GRCh37
NC_000011.8:g.17390814T>G	NCBI36
NG_008867.1:g.69212A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2200A>C
ENST00000529967.6:n.790A>C
ENST00000642611.2:n.2600A>C
ENST00000682051.1:n.2547A>C
ENST00000682110.1:n.2600A>C
ENST00000682140.1:c.2528A>C	ENSP00000507829.1:p.Tyr843Ser
ENST00000682185.1:n.3836A>C
ENST00000682204.1:c.*669A>C	ENSP00000507094.1:n.*669A>C
ENST00000682215.1:n.2597A>C
ENST00000682288.1:c.*962A>C	ENSP00000507506.1:n.*962A>C
ENST00000682442.1:n.2721A>C
ENST00000682528.1:n.2597A>C
ENST00000682673.1:n.2544A>C
ENST00000682805.1:n.2597A>C
ENST00000682965.1:c.2528A>C	ENSP00000508229.1:p.Tyr843Ser
ENST00000683093.1:n.2699A>C
ENST00000683136.1:c.2528A>C	ENSP00000507768.1:p.Tyr843Ser
ENST00000683153.1:n.2756A>C
ENST00000683365.1:n.2702A>C
ENST00000683377.1:n.2600A>C
ENST00000683456.1:c.2531A>C	ENSP00000508318.1:p.Tyr844Ser
ENST00000683522.1:n.2600A>C
ENST00000683562.1:c.*700A>C	ENSP00000508265.1:n.*700A>C
ENST00000683693.1:n.2597A>C
ENST00000683725.1:c.2531A>C	ENSP00000507496.1:p.Tyr844Ser
ENST00000684010.1:n.2515A>C
ENST00000684157.1:n.2600A>C
ENST00000684253.1:n.2503A>C
ENST00000684288.1:c.*703A>C	ENSP00000507143.1:n.*703A>C
ENST00000684313.1:n.2032A>C
ENST00000684332.1:n.2673A>C
ENST00000684371.1:n.2706A>C
ENST00000684404.1:n.2597A>C
ENST00000684442.1:n.2600A>C
ENST00000684555.1:c.*743A>C	ENSP00000507705.1:n.*743A>C
ENST00000684571.1:c.2372A>C	ENSP00000506935.1:p.Tyr791Ser
ENST00000684593.1:c.*2236A>C	ENSP00000507005.1:n.*2236A>C
ENST00000684711.1:c.*927A>C	ENSP00000506841.1:n.*927A>C
ENST00000302539.9:c.2534A>C	ENSP00000303960.4:p.Tyr845Ser
ENST00000389817.8:c.2531A>C MANE Select	ENSP00000374467.4:p.Tyr844Ser
ENST00000642271.1:c.2528A>C	ENSP00000493749.1:p.Tyr843Ser
ENST00000642579.1:c.615A>C
ENST00000642611.1:n.2485A>C
ENST00000642902.1:c.2366A>C
ENST00000643260.1:c.2531A>C	ENSP00000494450.1:p.Tyr844Ser
ENST00000643562.1:c.*507A>C	ENSP00000496124.1:n.*507A>C
ENST00000643925.1:c.575A>C
ENST00000644447.1:c.887A>C	ENSP00000496282.1:p.Tyr296Ser
ENST00000644472.1:c.*892A>C	ENSP00000495378.1:n.*892A>C
ENST00000644484.1:c.*740A>C	ENSP00000493558.1:n.*740A>C
ENST00000644542.1:c.*2236A>C	ENSP00000495532.1:n.*2236A>C
ENST00000644675.1:c.*703A>C	ENSP00000494567.1:n.*703A>C
ENST00000644757.1:c.*836A>C	ENSP00000495085.1:n.*836A>C
ENST00000644772.1:c.2597A>C	ENSP00000494321.1:p.Tyr866Ser
ENST00000645076.1:c.1783A>C
ENST00000645744.1:c.*895A>C	ENSP00000494564.1:n.*895A>C
ENST00000645760.1:c.2806A>C
ENST00000645884.1:c.2531A>C	ENSP00000495516.1:p.Tyr844Ser
ENST00000646003.1:c.*587A>C	ENSP00000495259.1:n.*587A>C
ENST00000646207.1:c.*895A>C	ENSP00000495025.1:n.*895A>C
ENST00000646276.1:c.*804A>C	ENSP00000496070.1:n.*804A>C
ENST00000646592.1:c.1757A>C
ENST00000646902.1:c.2528A>C	ENSP00000494101.1:p.Tyr843Ser
ENST00000646993.1:c.*927A>C	ENSP00000493720.1:n.*927A>C
ENST00000647013.1:c.2537A>C	ENSP00000496741.1:n.2537A>C
ENST00000647015.1:c.2282A>C	ENSP00000495389.1:p.Tyr761Ser
ENST00000647086.1:c.*2261A>C	ENSP00000493677.1:n.*2261A>C
ENST00000647158.1:c.*672A>C	ENSP00000495744.1:n.*672A>C
ENST00000302539.8:c.2534A>C	ENSP00000303960.4:p.Tyr845Ser
ENST00000389817.7:c.2531A>C	ENSP00000374467.3:p.Tyr844Ser
ENST00000526921.5:n.215A>C
ENST00000527905.5:c.2501A>C	ENSP00000431653.1:p.Tyr834Ser
ENST00000529967.5:n.200A>C
ENST00000530147.5:n.114A>C
ENST00000531911.1:n.645A>C
NM_000352.4:c.2531A>C	NP_000343.2:p.Tyr844Ser
NM_001287174.1:c.2534A>C	NP_001274103.1:p.Tyr845Ser
XM_011520331.1:c.2531A>C	XP_011518633.1:p.Tyr844Ser
XM_011520332.1:c.2534A>C	XP_011518634.1:p.Tyr845Ser
XM_011520333.1:c.1031A>C	XP_011518635.1:p.Tyr344Ser
XM_011520334.1:c.2534A>C	XP_011518636.1:p.Tyr845Ser
XR_930890.1:n.2597A>C
XR_930891.1:n.2597A>C
XR_930892.1:n.2597A>C
XR_930893.1:n.2594A>C
NM_001351295.1:c.2597A>C	NP_001338224.1:p.Tyr866Ser
NM_001351296.1:c.2531A>C	NP_001338225.1:p.Tyr844Ser
NM_001351297.1:c.2528A>C	NP_001338226.1:p.Tyr843Ser
NR_147094.1:n.2600A>C
XM_017018197.2:c.2600A>C	XP_016873686.1:p.Tyr867Ser
XM_017018199.1:c.2597A>C	XP_016873688.1:p.Tyr866Ser
XM_017018201.2:c.2600A>C	XP_016873690.1:p.Tyr867Ser
XM_017018202.1:c.1097A>C	XP_016873691.1:p.Tyr366Ser
XM_017018204.1:c.488A>C	XP_016873693.1:p.Tyr163Ser
XM_024448668.1:c.899A>C	XP_024304436.1:p.Tyr300Ser
XR_001747945.2:n.2672A>C
XR_001747946.2:n.2603A>C
XR_002957189.1:n.2672A>C
NM_000352.6:c.2531A>C MANE Select	NP_000343.2:p.Tyr844Ser
NM_001287174.2:c.2534A>C	NP_001274103.1:p.Tyr845Ser
NM_001351295.2:c.2597A>C	NP_001338224.1:p.Tyr866Ser
NM_001351296.2:c.2531A>C	NP_001338225.1:p.Tyr844Ser
NM_001351297.2:c.2528A>C	NP_001338226.1:p.Tyr843Ser
NR_147094.2:n.2600A>C
NM_001287174.3:c.2534A>C	NP_001274103.1:p.Tyr845Ser