Canonical Allele Identifier: CA379805240

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17408458-C-A
• MyVariant Identifiers: chr11:g.17430005C>A (hg19) ; chr11:g.17408458C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408458C>A , CM000673.2:g.17408458C>A	GRCh38
NC_000011.9:g.17430005C>A , CM000673.1:g.17430005C>A	GRCh37
NC_000011.8:g.17386581C>A	NCBI36
NG_008867.1:g.73445G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2423G>T
ENST00000529967.6:n.1013G>T
ENST00000532220.2:n.486G>T
ENST00000642611.2:n.2823G>T
ENST00000682051.1:n.2770G>T
ENST00000682110.1:n.2823G>T
ENST00000682140.1:c.2751G>T	ENSP00000507829.1:p.Arg917Ser
ENST00000682185.1:n.4059G>T
ENST00000682204.1:c.*892G>T	ENSP00000507094.1:n.*892G>T
ENST00000682215.1:n.2820G>T
ENST00000682288.1:c.*1185G>T	ENSP00000507506.1:n.*1185G>T
ENST00000682442.1:n.2944G>T
ENST00000682528.1:n.2820G>T
ENST00000682673.1:n.2767G>T
ENST00000682805.1:n.2820G>T
ENST00000682965.1:c.2751G>T	ENSP00000508229.1:p.Arg917Ser
ENST00000683093.1:n.2922G>T
ENST00000683136.1:c.2751G>T	ENSP00000507768.1:p.Arg917Ser
ENST00000683153.1:n.2979G>T
ENST00000683365.1:n.2925G>T
ENST00000683377.1:n.2823G>T
ENST00000683456.1:c.2754G>T	ENSP00000508318.1:p.Arg918Ser
ENST00000683522.1:n.2823G>T
ENST00000683562.1:c.*923G>T	ENSP00000508265.1:n.*923G>T
ENST00000683693.1:n.2820G>T
ENST00000683725.1:c.2754G>T	ENSP00000507496.1:p.Arg918Ser
ENST00000684010.1:n.2738G>T
ENST00000684157.1:n.2823G>T
ENST00000684253.1:n.2726G>T
ENST00000684288.1:c.*926G>T	ENSP00000507143.1:n.*926G>T
ENST00000684313.1:n.2255G>T
ENST00000684332.1:n.2896G>T
ENST00000684371.1:n.2929G>T
ENST00000684404.1:n.2820G>T
ENST00000684442.1:n.2823G>T
ENST00000684555.1:c.*966G>T	ENSP00000507705.1:n.*966G>T
ENST00000684571.1:c.2595G>T	ENSP00000506935.1:p.Arg865Ser
ENST00000684593.1:c.*2459G>T	ENSP00000507005.1:n.*2459G>T
ENST00000684711.1:c.*1150G>T	ENSP00000506841.1:n.*1150G>T
ENST00000302539.9:c.2757G>T	ENSP00000303960.4:p.Arg919Ser
ENST00000389817.8:c.2754G>T MANE Select	ENSP00000374467.4:p.Arg918Ser
ENST00000642271.1:c.2751G>T	ENSP00000493749.1:p.Arg917Ser
ENST00000642579.1:c.838G>T
ENST00000642611.1:n.2708G>T
ENST00000642902.1:c.2589G>T
ENST00000643260.1:c.2754G>T	ENSP00000494450.1:p.Arg918Ser
ENST00000643562.1:c.*730G>T	ENSP00000496124.1:n.*730G>T
ENST00000643925.1:c.798G>T
ENST00000644447.1:c.1110G>T	ENSP00000496282.1:p.Arg370Ser
ENST00000644472.1:c.*1115G>T	ENSP00000495378.1:n.*1115G>T
ENST00000644484.1:c.*963G>T	ENSP00000493558.1:n.*963G>T
ENST00000644542.1:c.*2459G>T	ENSP00000495532.1:n.*2459G>T
ENST00000644675.1:c.*926G>T	ENSP00000494567.1:n.*926G>T
ENST00000644757.1:c.*1059G>T	ENSP00000495085.1:n.*1059G>T
ENST00000644772.1:c.2820G>T	ENSP00000494321.1:p.Arg940Ser
ENST00000645076.1:c.2006G>T
ENST00000645744.1:c.*1118G>T	ENSP00000494564.1:n.*1118G>T
ENST00000645760.1:c.3029G>T
ENST00000645884.1:c.2754G>T	ENSP00000495516.1:p.Arg918Ser
ENST00000646003.1:c.*810G>T	ENSP00000495259.1:n.*810G>T
ENST00000646207.1:c.*1118G>T	ENSP00000495025.1:n.*1118G>T
ENST00000646276.1:c.*1027G>T	ENSP00000496070.1:n.*1027G>T
ENST00000646592.1:c.1980G>T
ENST00000646902.1:c.2751G>T	ENSP00000494101.1:p.Arg917Ser
ENST00000646993.1:c.*1150G>T	ENSP00000493720.1:n.*1150G>T
ENST00000647013.1:c.2760G>T	ENSP00000496741.1:n.2760G>T
ENST00000647015.1:c.2505G>T	ENSP00000495389.1:p.Arg835Ser
ENST00000647086.1:c.*2484G>T	ENSP00000493677.1:n.*2484G>T
ENST00000647158.1:c.*895G>T	ENSP00000495744.1:n.*895G>T
ENST00000302539.8:c.2757G>T	ENSP00000303960.4:p.Arg919Ser
ENST00000389817.7:c.2754G>T	ENSP00000374467.3:p.Arg918Ser
ENST00000526921.5:n.438G>T
ENST00000527905.5:c.2724G>T	ENSP00000431653.1:p.Arg908Ser
ENST00000529967.5:n.423G>T
NM_000352.4:c.2754G>T	NP_000343.2:p.Arg918Ser
NM_001287174.1:c.2757G>T	NP_001274103.1:p.Arg919Ser
XM_011520331.1:c.2754G>T	XP_011518633.1:p.Arg918Ser
XM_011520332.1:c.2757G>T	XP_011518634.1:p.Arg919Ser
XM_011520333.1:c.1254G>T	XP_011518635.1:p.Arg418Ser
XM_011520334.1:c.2757G>T	XP_011518636.1:p.Arg919Ser
XR_930890.1:n.2820G>T
XR_930891.1:n.2820G>T
XR_930892.1:n.2820G>T
XR_930893.1:n.2817G>T
NM_001351295.1:c.2820G>T	NP_001338224.1:p.Arg940Ser
NM_001351296.1:c.2754G>T	NP_001338225.1:p.Arg918Ser
NM_001351297.1:c.2751G>T	NP_001338226.1:p.Arg917Ser
NR_147094.1:n.2823G>T
XM_017018197.2:c.2823G>T	XP_016873686.1:p.Arg941Ser
XM_017018199.1:c.2820G>T	XP_016873688.1:p.Arg940Ser
XM_017018201.2:c.2823G>T	XP_016873690.1:p.Arg941Ser
XM_017018202.1:c.1320G>T	XP_016873691.1:p.Arg440Ser
XM_017018204.1:c.711G>T	XP_016873693.1:p.Arg237Ser
XM_024448668.1:c.1122G>T	XP_024304436.1:p.Arg374Ser
XR_001747945.2:n.2895G>T
XR_001747946.2:n.2826G>T
XR_002957189.1:n.2895G>T
NM_000352.6:c.2754G>T MANE Select	NP_000343.2:p.Arg918Ser
NM_001287174.2:c.2757G>T	NP_001274103.1:p.Arg919Ser
NM_001351295.2:c.2820G>T	NP_001338224.1:p.Arg940Ser
NM_001351296.2:c.2754G>T	NP_001338225.1:p.Arg918Ser
NM_001351297.2:c.2751G>T	NP_001338226.1:p.Arg917Ser
NR_147094.2:n.2823G>T
NM_001287174.3:c.2757G>T	NP_001274103.1:p.Arg919Ser