Canonical Allele Identifier: CA5903100

Gene: ABCC8

Linked Data

• dbSNP Id: rs561593131
• ExAC: 11:17434230 C / A
• gnomAD v2: 11-17434230-C-A
• gnomAD v4: 11-17412683-C-A
• MyVariant Identifiers: chr11:g.17434230C>A (hg19) ; chr11:g.17412683C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412683C>A , CM000673.2:g.17412683C>A	GRCh38
NC_000011.9:g.17434230C>A , CM000673.1:g.17434230C>A	GRCh37
NC_000011.8:g.17390806C>A	NCBI36
NG_008867.1:g.69220G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2208G>T
ENST00000529967.6:n.798G>T
ENST00000642611.2:n.2608G>T
ENST00000682051.1:n.2555G>T
ENST00000682110.1:n.2608G>T
ENST00000682140.1:c.2536G>T	ENSP00000507829.1:p.Ala846Ser
ENST00000682185.1:n.3844G>T
ENST00000682204.1:c.*677G>T	ENSP00000507094.1:n.*677G>T
ENST00000682215.1:n.2605G>T
ENST00000682288.1:c.*970G>T	ENSP00000507506.1:n.*970G>T
ENST00000682442.1:n.2729G>T
ENST00000682528.1:n.2605G>T
ENST00000682673.1:n.2552G>T
ENST00000682805.1:n.2605G>T
ENST00000682965.1:c.2536G>T	ENSP00000508229.1:p.Ala846Ser
ENST00000683093.1:n.2707G>T
ENST00000683136.1:c.2536G>T	ENSP00000507768.1:p.Ala846Ser
ENST00000683153.1:n.2764G>T
ENST00000683365.1:n.2710G>T
ENST00000683377.1:n.2608G>T
ENST00000683456.1:c.2539G>T	ENSP00000508318.1:p.Ala847Ser
ENST00000683522.1:n.2608G>T
ENST00000683562.1:c.*708G>T	ENSP00000508265.1:n.*708G>T
ENST00000683693.1:n.2605G>T
ENST00000683725.1:c.2539G>T	ENSP00000507496.1:p.Ala847Ser
ENST00000684010.1:n.2523G>T
ENST00000684157.1:n.2608G>T
ENST00000684253.1:n.2511G>T
ENST00000684288.1:c.*711G>T	ENSP00000507143.1:n.*711G>T
ENST00000684313.1:n.2040G>T
ENST00000684332.1:n.2681G>T
ENST00000684371.1:n.2714G>T
ENST00000684404.1:n.2605G>T
ENST00000684442.1:n.2608G>T
ENST00000684555.1:c.*751G>T	ENSP00000507705.1:n.*751G>T
ENST00000684571.1:c.2380G>T	ENSP00000506935.1:p.Ala794Ser
ENST00000684593.1:c.*2244G>T	ENSP00000507005.1:n.*2244G>T
ENST00000684711.1:c.*935G>T	ENSP00000506841.1:n.*935G>T
ENST00000302539.9:c.2542G>T	ENSP00000303960.4:p.Ala848Ser
ENST00000389817.8:c.2539G>T MANE Select	ENSP00000374467.4:p.Ala847Ser
ENST00000642271.1:c.2536G>T	ENSP00000493749.1:p.Ala846Ser
ENST00000642579.1:c.623G>T
ENST00000642611.1:n.2493G>T
ENST00000642902.1:c.2374G>T
ENST00000643260.1:c.2539G>T	ENSP00000494450.1:p.Ala847Ser
ENST00000643562.1:c.*515G>T	ENSP00000496124.1:n.*515G>T
ENST00000643925.1:c.583G>T
ENST00000644447.1:c.895G>T	ENSP00000496282.1:p.Ala299Ser
ENST00000644472.1:c.*900G>T	ENSP00000495378.1:n.*900G>T
ENST00000644484.1:c.*748G>T	ENSP00000493558.1:n.*748G>T
ENST00000644542.1:c.*2244G>T	ENSP00000495532.1:n.*2244G>T
ENST00000644675.1:c.*711G>T	ENSP00000494567.1:n.*711G>T
ENST00000644757.1:c.*844G>T	ENSP00000495085.1:n.*844G>T
ENST00000644772.1:c.2605G>T	ENSP00000494321.1:p.Ala869Ser
ENST00000645076.1:c.1791G>T
ENST00000645744.1:c.*903G>T	ENSP00000494564.1:n.*903G>T
ENST00000645760.1:c.2814G>T
ENST00000645884.1:c.2539G>T	ENSP00000495516.1:p.Ala847Ser
ENST00000646003.1:c.*595G>T	ENSP00000495259.1:n.*595G>T
ENST00000646207.1:c.*903G>T	ENSP00000495025.1:n.*903G>T
ENST00000646276.1:c.*812G>T	ENSP00000496070.1:n.*812G>T
ENST00000646592.1:c.1765G>T
ENST00000646902.1:c.2536G>T	ENSP00000494101.1:p.Ala846Ser
ENST00000646993.1:c.*935G>T	ENSP00000493720.1:n.*935G>T
ENST00000647013.1:c.2545G>T	ENSP00000496741.1:n.2545G>T
ENST00000647015.1:c.2290G>T	ENSP00000495389.1:p.Ala764Ser
ENST00000647086.1:c.*2269G>T	ENSP00000493677.1:n.*2269G>T
ENST00000647158.1:c.*680G>T	ENSP00000495744.1:n.*680G>T
ENST00000302539.8:c.2542G>T	ENSP00000303960.4:p.Ala848Ser
ENST00000389817.7:c.2539G>T	ENSP00000374467.3:p.Ala847Ser
ENST00000526921.5:n.223G>T
ENST00000527905.5:c.2509G>T	ENSP00000431653.1:p.Ala837Ser
ENST00000529967.5:n.208G>T
ENST00000530147.5:n.122G>T
ENST00000531911.1:n.653G>T
NM_000352.4:c.2539G>T	NP_000343.2:p.Ala847Ser
NM_001287174.1:c.2542G>T	NP_001274103.1:p.Ala848Ser
XM_011520331.1:c.2539G>T	XP_011518633.1:p.Ala847Ser
XM_011520332.1:c.2542G>T	XP_011518634.1:p.Ala848Ser
XM_011520333.1:c.1039G>T	XP_011518635.1:p.Ala347Ser
XM_011520334.1:c.2542G>T	XP_011518636.1:p.Ala848Ser
XR_930890.1:n.2605G>T
XR_930891.1:n.2605G>T
XR_930892.1:n.2605G>T
XR_930893.1:n.2602G>T
NM_001351295.1:c.2605G>T	NP_001338224.1:p.Ala869Ser
NM_001351296.1:c.2539G>T	NP_001338225.1:p.Ala847Ser
NM_001351297.1:c.2536G>T	NP_001338226.1:p.Ala846Ser
NR_147094.1:n.2608G>T
XM_017018197.2:c.2608G>T	XP_016873686.1:p.Ala870Ser
XM_017018199.1:c.2605G>T	XP_016873688.1:p.Ala869Ser
XM_017018201.2:c.2608G>T	XP_016873690.1:p.Ala870Ser
XM_017018202.1:c.1105G>T	XP_016873691.1:p.Ala369Ser
XM_017018204.1:c.496G>T	XP_016873693.1:p.Ala166Ser
XM_024448668.1:c.907G>T	XP_024304436.1:p.Ala303Ser
XR_001747945.2:n.2680G>T
XR_001747946.2:n.2611G>T
XR_002957189.1:n.2680G>T
NM_000352.6:c.2539G>T MANE Select	NP_000343.2:p.Ala847Ser
NM_001287174.2:c.2542G>T	NP_001274103.1:p.Ala848Ser
NM_001351295.2:c.2605G>T	NP_001338224.1:p.Ala869Ser
NM_001351296.2:c.2539G>T	NP_001338225.1:p.Ala847Ser
NM_001351297.2:c.2536G>T	NP_001338226.1:p.Ala846Ser
NR_147094.2:n.2608G>T
NM_001287174.3:c.2542G>T	NP_001274103.1:p.Ala848Ser