Canonical Allele Identifier: CA379807466

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17412698-C-A
• MyVariant Identifiers: chr11:g.17434245C>A (hg19) ; chr11:g.17412698C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412698C>A , CM000673.2:g.17412698C>A	GRCh38
NC_000011.9:g.17434245C>A , CM000673.1:g.17434245C>A	GRCh37
NC_000011.8:g.17390821C>A	NCBI36
NG_008867.1:g.69205G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2193G>T
ENST00000529967.6:n.783G>T
ENST00000642611.2:n.2593G>T
ENST00000682051.1:n.2540G>T
ENST00000682110.1:n.2593G>T
ENST00000682140.1:c.2521G>T	ENSP00000507829.1:p.Ala841Ser
ENST00000682185.1:n.3829G>T
ENST00000682204.1:c.*662G>T	ENSP00000507094.1:n.*662G>T
ENST00000682215.1:n.2590G>T
ENST00000682288.1:c.*955G>T	ENSP00000507506.1:n.*955G>T
ENST00000682442.1:n.2714G>T
ENST00000682528.1:n.2590G>T
ENST00000682673.1:n.2537G>T
ENST00000682805.1:n.2590G>T
ENST00000682965.1:c.2521G>T	ENSP00000508229.1:p.Ala841Ser
ENST00000683093.1:n.2692G>T
ENST00000683136.1:c.2521G>T	ENSP00000507768.1:p.Ala841Ser
ENST00000683153.1:n.2749G>T
ENST00000683365.1:n.2695G>T
ENST00000683377.1:n.2593G>T
ENST00000683456.1:c.2524G>T	ENSP00000508318.1:p.Ala842Ser
ENST00000683522.1:n.2593G>T
ENST00000683562.1:c.*693G>T	ENSP00000508265.1:n.*693G>T
ENST00000683693.1:n.2590G>T
ENST00000683725.1:c.2524G>T	ENSP00000507496.1:p.Ala842Ser
ENST00000684010.1:n.2508G>T
ENST00000684157.1:n.2593G>T
ENST00000684253.1:n.2496G>T
ENST00000684288.1:c.*696G>T	ENSP00000507143.1:n.*696G>T
ENST00000684313.1:n.2025G>T
ENST00000684332.1:n.2666G>T
ENST00000684371.1:n.2699G>T
ENST00000684404.1:n.2590G>T
ENST00000684442.1:n.2593G>T
ENST00000684555.1:c.*736G>T	ENSP00000507705.1:n.*736G>T
ENST00000684571.1:c.2365G>T	ENSP00000506935.1:p.Ala789Ser
ENST00000684593.1:c.*2229G>T	ENSP00000507005.1:n.*2229G>T
ENST00000684711.1:c.*920G>T	ENSP00000506841.1:n.*920G>T
ENST00000302539.9:c.2527G>T	ENSP00000303960.4:p.Ala843Ser
ENST00000389817.8:c.2524G>T MANE Select	ENSP00000374467.4:p.Ala842Ser
ENST00000642271.1:c.2521G>T	ENSP00000493749.1:p.Ala841Ser
ENST00000642579.1:c.608G>T
ENST00000642611.1:n.2478G>T
ENST00000642902.1:c.2359G>T
ENST00000643260.1:c.2524G>T	ENSP00000494450.1:p.Ala842Ser
ENST00000643562.1:c.*500G>T	ENSP00000496124.1:n.*500G>T
ENST00000643925.1:c.568G>T
ENST00000644447.1:c.880G>T	ENSP00000496282.1:p.Ala294Ser
ENST00000644472.1:c.*885G>T	ENSP00000495378.1:n.*885G>T
ENST00000644484.1:c.*733G>T	ENSP00000493558.1:n.*733G>T
ENST00000644542.1:c.*2229G>T	ENSP00000495532.1:n.*2229G>T
ENST00000644675.1:c.*696G>T	ENSP00000494567.1:n.*696G>T
ENST00000644757.1:c.*829G>T	ENSP00000495085.1:n.*829G>T
ENST00000644772.1:c.2590G>T	ENSP00000494321.1:p.Ala864Ser
ENST00000645076.1:c.1776G>T
ENST00000645744.1:c.*888G>T	ENSP00000494564.1:n.*888G>T
ENST00000645760.1:c.2799G>T
ENST00000645884.1:c.2524G>T	ENSP00000495516.1:p.Ala842Ser
ENST00000646003.1:c.*580G>T	ENSP00000495259.1:n.*580G>T
ENST00000646207.1:c.*888G>T	ENSP00000495025.1:n.*888G>T
ENST00000646276.1:c.*797G>T	ENSP00000496070.1:n.*797G>T
ENST00000646592.1:c.1750G>T
ENST00000646902.1:c.2521G>T	ENSP00000494101.1:p.Ala841Ser
ENST00000646993.1:c.*920G>T	ENSP00000493720.1:n.*920G>T
ENST00000647013.1:c.2530G>T	ENSP00000496741.1:n.2530G>T
ENST00000647015.1:c.2275G>T	ENSP00000495389.1:p.Ala759Ser
ENST00000647086.1:c.*2254G>T	ENSP00000493677.1:n.*2254G>T
ENST00000647158.1:c.*665G>T	ENSP00000495744.1:n.*665G>T
ENST00000302539.8:c.2527G>T	ENSP00000303960.4:p.Ala843Ser
ENST00000389817.7:c.2524G>T	ENSP00000374467.3:p.Ala842Ser
ENST00000526921.5:n.208G>T
ENST00000527905.5:c.2494G>T	ENSP00000431653.1:p.Ala832Ser
ENST00000529967.5:n.193G>T
ENST00000530147.5:n.107G>T
ENST00000531911.1:n.638G>T
NM_000352.4:c.2524G>T	NP_000343.2:p.Ala842Ser
NM_001287174.1:c.2527G>T	NP_001274103.1:p.Ala843Ser
XM_011520331.1:c.2524G>T	XP_011518633.1:p.Ala842Ser
XM_011520332.1:c.2527G>T	XP_011518634.1:p.Ala843Ser
XM_011520333.1:c.1024G>T	XP_011518635.1:p.Ala342Ser
XM_011520334.1:c.2527G>T	XP_011518636.1:p.Ala843Ser
XR_930890.1:n.2590G>T
XR_930891.1:n.2590G>T
XR_930892.1:n.2590G>T
XR_930893.1:n.2587G>T
NM_001351295.1:c.2590G>T	NP_001338224.1:p.Ala864Ser
NM_001351296.1:c.2524G>T	NP_001338225.1:p.Ala842Ser
NM_001351297.1:c.2521G>T	NP_001338226.1:p.Ala841Ser
NR_147094.1:n.2593G>T
XM_017018197.2:c.2593G>T	XP_016873686.1:p.Ala865Ser
XM_017018199.1:c.2590G>T	XP_016873688.1:p.Ala864Ser
XM_017018201.2:c.2593G>T	XP_016873690.1:p.Ala865Ser
XM_017018202.1:c.1090G>T	XP_016873691.1:p.Ala364Ser
XM_017018204.1:c.481G>T	XP_016873693.1:p.Ala161Ser
XM_024448668.1:c.892G>T	XP_024304436.1:p.Ala298Ser
XR_001747945.2:n.2665G>T
XR_001747946.2:n.2596G>T
XR_002957189.1:n.2665G>T
NM_000352.6:c.2524G>T MANE Select	NP_000343.2:p.Ala842Ser
NM_001287174.2:c.2527G>T	NP_001274103.1:p.Ala843Ser
NM_001351295.2:c.2590G>T	NP_001338224.1:p.Ala864Ser
NM_001351296.2:c.2524G>T	NP_001338225.1:p.Ala842Ser
NM_001351297.2:c.2521G>T	NP_001338226.1:p.Ala841Ser
NR_147094.2:n.2593G>T
NM_001287174.3:c.2527G>T	NP_001274103.1:p.Ala843Ser