Canonical Allele Identifier: CA5903091

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1218710
• ClinVar RCV Id: RCV001593906 ; RCV001827538
• dbSNP Id: rs76285388
• ExAC: 11:17434183 G / A
• gnomAD v2: 11-17434183-G-A
• gnomAD v3: 11-17412636-G-A
• gnomAD v4: 11-17412636-G-A
• MyVariant Identifiers: chr11:g.17434183G>A (hg19) ; chr11:g.17412636G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412636G>A , CM000673.2:g.17412636G>A	GRCh38
NC_000011.9:g.17434183G>A , CM000673.1:g.17434183G>A	GRCh37
NC_000011.8:g.17390759G>A	NCBI36
NG_008867.1:g.69267C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2225+30C>T
ENST00000529967.6:n.815+30C>T
ENST00000642611.2:n.2625+30C>T
ENST00000682051.1:n.2572+30C>T
ENST00000682110.1:n.2625+30C>T
ENST00000682140.1:c.2553+30C>T	ENSP00000507829.1:n.2553+30C>T
ENST00000682185.1:n.3861+30C>T
ENST00000682204.1:c.*694+30C>T	ENSP00000507094.1:n.*694+30C>T
ENST00000682215.1:n.2622+30C>T
ENST00000682288.1:c.*987+30C>T	ENSP00000507506.1:n.*987+30C>T
ENST00000682442.1:n.2746+30C>T
ENST00000682528.1:n.2622+30C>T
ENST00000682673.1:n.2569+30C>T
ENST00000682805.1:n.2622+30C>T
ENST00000682965.1:c.2553+30C>T	ENSP00000508229.1:n.2553+30C>T
ENST00000683093.1:n.2724+30C>T
ENST00000683136.1:c.2553+30C>T	ENSP00000507768.1:n.2553+30C>T
ENST00000683153.1:n.2781+30C>T
ENST00000683365.1:n.2727+30C>T
ENST00000683377.1:n.2625+30C>T
ENST00000683456.1:c.2556+30C>T	ENSP00000508318.1:n.2556+30C>T
ENST00000683522.1:n.2625+30C>T
ENST00000683562.1:c.*725+30C>T	ENSP00000508265.1:n.*725+30C>T
ENST00000683693.1:n.2622+30C>T
ENST00000683725.1:c.2556+30C>T	ENSP00000507496.1:n.2556+30C>T
ENST00000684010.1:n.2540+30C>T
ENST00000684157.1:n.2625+30C>T
ENST00000684253.1:n.2528+30C>T
ENST00000684288.1:c.*728+30C>T	ENSP00000507143.1:n.*728+30C>T
ENST00000684313.1:n.2057+30C>T
ENST00000684332.1:n.2698+30C>T
ENST00000684371.1:n.2731+30C>T
ENST00000684404.1:n.2622+30C>T
ENST00000684442.1:n.2625+30C>T
ENST00000684555.1:c.*768+30C>T	ENSP00000507705.1:n.*768+30C>T
ENST00000684571.1:c.2397+30C>T	ENSP00000506935.1:n.2397+30C>T
ENST00000684593.1:c.*2261+30C>T	ENSP00000507005.1:n.*2261+30C>T
ENST00000684711.1:c.*952+30C>T	ENSP00000506841.1:n.*952+30C>T
ENST00000302539.9:c.2559+30C>T	ENSP00000303960.4:n.2559+30C>T
ENST00000389817.8:c.2556+30C>T MANE Select	ENSP00000374467.4:n.2556+30C>T
ENST00000642271.1:c.2553+30C>T	ENSP00000493749.1:n.2553+30C>T
ENST00000642579.1:c.640+30C>T
ENST00000642611.1:n.2510+30C>T
ENST00000642902.1:c.2391+30C>T
ENST00000643260.1:c.2556+30C>T	ENSP00000494450.1:n.2556+30C>T
ENST00000643562.1:c.*532+30C>T	ENSP00000496124.1:n.*532+30C>T
ENST00000643925.1:c.600+30C>T
ENST00000644447.1:c.912+30C>T	ENSP00000496282.1:n.912+30C>T
ENST00000644472.1:c.*917+30C>T	ENSP00000495378.1:n.*917+30C>T
ENST00000644484.1:c.*765+30C>T	ENSP00000493558.1:n.*765+30C>T
ENST00000644542.1:c.*2261+30C>T	ENSP00000495532.1:n.*2261+30C>T
ENST00000644675.1:c.*728+30C>T	ENSP00000494567.1:n.*728+30C>T
ENST00000644757.1:c.*861+30C>T	ENSP00000495085.1:n.*861+30C>T
ENST00000644772.1:c.2622+30C>T	ENSP00000494321.1:n.2622+30C>T
ENST00000645076.1:c.1808+30C>T
ENST00000645744.1:c.*920+30C>T	ENSP00000494564.1:n.*920+30C>T
ENST00000645760.1:c.2831+30C>T
ENST00000645884.1:c.2556+30C>T	ENSP00000495516.1:n.2556+30C>T
ENST00000646003.1:c.*612+30C>T	ENSP00000495259.1:n.*612+30C>T
ENST00000646207.1:c.*920+30C>T	ENSP00000495025.1:n.*920+30C>T
ENST00000646276.1:c.*829+30C>T	ENSP00000496070.1:n.*829+30C>T
ENST00000646592.1:c.1782+30C>T
ENST00000646902.1:c.2553+30C>T	ENSP00000494101.1:n.2553+30C>T
ENST00000646993.1:c.*952+30C>T	ENSP00000493720.1:n.*952+30C>T
ENST00000647013.1:c.2562+30C>T	ENSP00000496741.1:n.2562+30C>T
ENST00000647015.1:c.2307+30C>T	ENSP00000495389.1:n.2307+30C>T
ENST00000647086.1:c.*2286+30C>T	ENSP00000493677.1:n.*2286+30C>T
ENST00000647158.1:c.*697+30C>T	ENSP00000495744.1:n.*697+30C>T
ENST00000302539.8:c.2559+30C>T	ENSP00000303960.4:n.2559+30C>T
ENST00000389817.7:c.2556+30C>T	ENSP00000374467.3:n.2556+30C>T
ENST00000526921.5:n.240+30C>T
ENST00000527905.5:c.2526+30C>T	ENSP00000431653.1:n.2526+30C>T
ENST00000529967.5:n.225+30C>T
ENST00000530147.5:n.139+30C>T
ENST00000531911.1:n.670+30C>T
NM_000352.4:c.2556+30C>T	NP_000343.2:n.2556+30C>T
NM_001287174.1:c.2559+30C>T	NP_001274103.1:n.2559+30C>T
XM_011520331.1:c.2556+30C>T	XP_011518633.1:n.2556+30C>T
XM_011520332.1:c.2559+30C>T	XP_011518634.1:n.2559+30C>T
XM_011520333.1:c.1056+30C>T	XP_011518635.1:n.1056+30C>T
XM_011520334.1:c.2559+30C>T	XP_011518636.1:n.2559+30C>T
XR_930890.1:n.2622+30C>T
XR_930891.1:n.2622+30C>T
XR_930892.1:n.2622+30C>T
XR_930893.1:n.2619+30C>T
NM_001351295.1:c.2622+30C>T	NP_001338224.1:n.2622+30C>T
NM_001351296.1:c.2556+30C>T	NP_001338225.1:n.2556+30C>T
NM_001351297.1:c.2553+30C>T	NP_001338226.1:n.2553+30C>T
NR_147094.1:n.2625+30C>T
XM_017018197.2:c.2625+30C>T	XP_016873686.1:n.2625+30C>T
XM_017018199.1:c.2622+30C>T	XP_016873688.1:n.2622+30C>T
XM_017018201.2:c.2625+30C>T	XP_016873690.1:n.2625+30C>T
XM_017018202.1:c.1122+30C>T	XP_016873691.1:n.1122+30C>T
XM_017018204.1:c.513+30C>T	XP_016873693.1:n.513+30C>T
XM_024448668.1:c.924+30C>T	XP_024304436.1:n.924+30C>T
XR_001747945.2:n.2697+30C>T
XR_001747946.2:n.2628+30C>T
XR_002957189.1:n.2697+30C>T
NM_000352.6:c.2556+30C>T MANE Select	NP_000343.2:n.2556+30C>T
NM_001287174.2:c.2559+30C>T	NP_001274103.1:n.2559+30C>T
NM_001351295.2:c.2622+30C>T	NP_001338224.1:n.2622+30C>T
NM_001351296.2:c.2556+30C>T	NP_001338225.1:n.2556+30C>T
NM_001351297.2:c.2553+30C>T	NP_001338226.1:n.2553+30C>T
NR_147094.2:n.2625+30C>T
NM_001287174.3:c.2559+30C>T	NP_001274103.1:n.2559+30C>T