Canonical Allele Identifier: CA379807789

Gene: ABCC8

Linked Data

• dbSNP Id: rs1288025890
• gnomAD v2: 11-17434293-C-T
• COSMIC: COSM428764
• MyVariant Identifiers: chr11:g.17434293C>T (hg19) ; chr11:g.17412746C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412746C>T , CM000673.2:g.17412746C>T	GRCh38
NC_000011.9:g.17434293C>T , CM000673.1:g.17434293C>T	GRCh37
NC_000011.8:g.17390869C>T	NCBI36
NG_008867.1:g.69157G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2145G>A
ENST00000529967.6:n.735G>A
ENST00000642611.2:n.2545G>A
ENST00000682051.1:n.2492G>A
ENST00000682110.1:n.2545G>A
ENST00000682140.1:c.2473G>A	ENSP00000507829.1:p.Gly825Ser
ENST00000682185.1:n.3781G>A
ENST00000682204.1:c.*614G>A	ENSP00000507094.1:n.*614G>A
ENST00000682215.1:n.2542G>A
ENST00000682288.1:c.*907G>A	ENSP00000507506.1:n.*907G>A
ENST00000682442.1:n.2666G>A
ENST00000682528.1:n.2542G>A
ENST00000682673.1:n.2489G>A
ENST00000682805.1:n.2542G>A
ENST00000682965.1:c.2473G>A	ENSP00000508229.1:p.Gly825Ser
ENST00000683093.1:n.2644G>A
ENST00000683136.1:c.2473G>A	ENSP00000507768.1:p.Gly825Ser
ENST00000683153.1:n.2701G>A
ENST00000683365.1:n.2647G>A
ENST00000683377.1:n.2545G>A
ENST00000683456.1:c.2476G>A	ENSP00000508318.1:p.Gly826Ser
ENST00000683522.1:n.2545G>A
ENST00000683562.1:c.*645G>A	ENSP00000508265.1:n.*645G>A
ENST00000683693.1:n.2542G>A
ENST00000683725.1:c.2476G>A	ENSP00000507496.1:p.Gly826Ser
ENST00000684010.1:n.2460G>A
ENST00000684157.1:n.2545G>A
ENST00000684253.1:n.2448G>A
ENST00000684288.1:c.*648G>A	ENSP00000507143.1:n.*648G>A
ENST00000684313.1:n.1977G>A
ENST00000684332.1:n.2618G>A
ENST00000684371.1:n.2651G>A
ENST00000684404.1:n.2542G>A
ENST00000684442.1:n.2545G>A
ENST00000684555.1:c.*688G>A	ENSP00000507705.1:n.*688G>A
ENST00000684571.1:c.2317G>A	ENSP00000506935.1:p.Gly773Ser
ENST00000684593.1:c.*2181G>A	ENSP00000507005.1:n.*2181G>A
ENST00000684711.1:c.*872G>A	ENSP00000506841.1:n.*872G>A
ENST00000302539.9:c.2479G>A	ENSP00000303960.4:p.Gly827Ser
ENST00000389817.8:c.2476G>A MANE Select	ENSP00000374467.4:p.Gly826Ser
ENST00000642271.1:c.2473G>A	ENSP00000493749.1:p.Gly825Ser
ENST00000642579.1:c.560G>A
ENST00000642611.1:n.2430G>A
ENST00000642902.1:c.2311G>A
ENST00000643260.1:c.2476G>A	ENSP00000494450.1:p.Gly826Ser
ENST00000643562.1:c.*452G>A	ENSP00000496124.1:n.*452G>A
ENST00000643925.1:c.520G>A
ENST00000644447.1:c.832G>A	ENSP00000496282.1:p.Gly278Ser
ENST00000644472.1:c.*837G>A	ENSP00000495378.1:n.*837G>A
ENST00000644484.1:c.*685G>A	ENSP00000493558.1:n.*685G>A
ENST00000644542.1:c.*2181G>A	ENSP00000495532.1:n.*2181G>A
ENST00000644675.1:c.*648G>A	ENSP00000494567.1:n.*648G>A
ENST00000644757.1:c.*781G>A	ENSP00000495085.1:n.*781G>A
ENST00000644772.1:c.2542G>A	ENSP00000494321.1:p.Gly848Ser
ENST00000645076.1:c.1728G>A
ENST00000645744.1:c.*840G>A	ENSP00000494564.1:n.*840G>A
ENST00000645760.1:c.2751G>A
ENST00000645884.1:c.2476G>A	ENSP00000495516.1:p.Gly826Ser
ENST00000646003.1:c.*532G>A	ENSP00000495259.1:n.*532G>A
ENST00000646207.1:c.*840G>A	ENSP00000495025.1:n.*840G>A
ENST00000646276.1:c.*749G>A	ENSP00000496070.1:n.*749G>A
ENST00000646592.1:c.1702G>A
ENST00000646902.1:c.2473G>A	ENSP00000494101.1:p.Gly825Ser
ENST00000646993.1:c.*872G>A	ENSP00000493720.1:n.*872G>A
ENST00000647013.1:c.2482G>A	ENSP00000496741.1:n.2482G>A
ENST00000647015.1:c.2227G>A	ENSP00000495389.1:p.Gly743Ser
ENST00000647086.1:c.*2206G>A	ENSP00000493677.1:n.*2206G>A
ENST00000647158.1:c.*617G>A	ENSP00000495744.1:n.*617G>A
ENST00000302539.8:c.2479G>A	ENSP00000303960.4:p.Gly827Ser
ENST00000389817.7:c.2476G>A	ENSP00000374467.3:p.Gly826Ser
ENST00000526921.5:n.160G>A
ENST00000527905.5:c.2446G>A	ENSP00000431653.1:p.Gly816Ser
ENST00000529967.5:n.145G>A
ENST00000530147.5:n.59G>A
ENST00000531911.1:n.590G>A
NM_000352.4:c.2476G>A	NP_000343.2:p.Gly826Ser
NM_001287174.1:c.2479G>A	NP_001274103.1:p.Gly827Ser
XM_011520331.1:c.2476G>A	XP_011518633.1:p.Gly826Ser
XM_011520332.1:c.2479G>A	XP_011518634.1:p.Gly827Ser
XM_011520333.1:c.976G>A	XP_011518635.1:p.Gly326Ser
XM_011520334.1:c.2479G>A	XP_011518636.1:p.Gly827Ser
XR_930890.1:n.2542G>A
XR_930891.1:n.2542G>A
XR_930892.1:n.2542G>A
XR_930893.1:n.2539G>A
NM_001351295.1:c.2542G>A	NP_001338224.1:p.Gly848Ser
NM_001351296.1:c.2476G>A	NP_001338225.1:p.Gly826Ser
NM_001351297.1:c.2473G>A	NP_001338226.1:p.Gly825Ser
NR_147094.1:n.2545G>A
XM_017018197.2:c.2545G>A	XP_016873686.1:p.Gly849Ser
XM_017018199.1:c.2542G>A	XP_016873688.1:p.Gly848Ser
XM_017018201.2:c.2545G>A	XP_016873690.1:p.Gly849Ser
XM_017018202.1:c.1042G>A	XP_016873691.1:p.Gly348Ser
XM_017018204.1:c.433G>A	XP_016873693.1:p.Gly145Ser
XM_024448668.1:c.844G>A	XP_024304436.1:p.Gly282Ser
XR_001747945.2:n.2617G>A
XR_001747946.2:n.2548G>A
XR_002957189.1:n.2617G>A
NM_000352.6:c.2476G>A MANE Select	NP_000343.2:p.Gly826Ser
NM_001287174.2:c.2479G>A	NP_001274103.1:p.Gly827Ser
NM_001351295.2:c.2542G>A	NP_001338224.1:p.Gly848Ser
NM_001351296.2:c.2476G>A	NP_001338225.1:p.Gly826Ser
NM_001351297.2:c.2473G>A	NP_001338226.1:p.Gly825Ser
NR_147094.2:n.2545G>A
NM_001287174.3:c.2479G>A	NP_001274103.1:p.Gly827Ser