Canonical Allele Identifier: CA379788380

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395912-T-A
• MyVariant Identifiers: chr11:g.17417459T>A (hg19) ; chr11:g.17395912T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395912T>A , CM000673.2:g.17395912T>A	GRCh38
NC_000011.9:g.17417459T>A , CM000673.1:g.17417459T>A	GRCh37
NC_000011.8:g.17374035T>A	NCBI36
NG_008867.1:g.85991A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3739A>T
ENST00000528374.2:c.729A>T
ENST00000529967.6:n.2477A>T
ENST00000532220.2:n.3371A>T
ENST00000642611.2:n.5338A>T
ENST00000644057.2:n.581A>T
ENST00000645004.2:n.1637A>T
ENST00000682051.1:n.4300A>T
ENST00000682110.1:n.4353A>T
ENST00000682140.1:c.4004A>T	ENSP00000507829.1:p.His1335Leu
ENST00000682185.1:n.5443A>T
ENST00000682204.1:c.*2276A>T	ENSP00000507094.1:n.*2276A>T
ENST00000682215.1:n.4720A>T
ENST00000682288.1:c.*2569A>T	ENSP00000507506.1:n.*2569A>T
ENST00000682442.1:n.4573A>T
ENST00000682528.1:n.4430A>T
ENST00000682673.1:n.4297A>T
ENST00000682805.1:n.4758A>T
ENST00000682965.1:c.*560A>T	ENSP00000508229.1:n.*560A>T
ENST00000683093.1:n.5437A>T
ENST00000683136.1:c.4021A>T	ENSP00000507768.1:p.Thr1341Ser
ENST00000683153.1:n.4395A>T
ENST00000683365.1:n.4455A>T
ENST00000683377.1:n.4353A>T
ENST00000683456.1:c.*1275A>T	ENSP00000508318.1:n.*1275A>T
ENST00000683522.1:n.4353A>T
ENST00000683562.1:c.*2307A>T	ENSP00000508265.1:n.*2307A>T
ENST00000683693.1:n.5785A>T
ENST00000683725.1:c.4138A>T	ENSP00000507496.1:p.Thr1380Ser
ENST00000684010.1:n.4348A>T
ENST00000684157.1:n.5338A>T
ENST00000684253.1:n.4256A>T
ENST00000684288.1:c.*2310A>T	ENSP00000507143.1:n.*2310A>T
ENST00000684313.1:n.3785A>T
ENST00000684332.1:n.4426A>T
ENST00000684371.1:n.4459A>T
ENST00000684404.1:n.5381A>T
ENST00000684442.1:n.4577A>T
ENST00000684555.1:c.*2350A>T	ENSP00000507705.1:n.*2350A>T
ENST00000684571.1:c.3979A>T	ENSP00000506935.1:p.Thr1327Ser
ENST00000684593.1:c.*3843A>T	ENSP00000507005.1:n.*3843A>T
ENST00000684711.1:c.*2534A>T	ENSP00000506841.1:n.*2534A>T
ENST00000302539.9:c.4141A>T	ENSP00000303960.4:p.Thr1381Ser
ENST00000389817.8:c.4138A>T MANE Select	ENSP00000374467.4:p.Thr1380Ser
ENST00000642271.1:c.4135A>T	ENSP00000493749.1:p.Thr1379Ser
ENST00000642579.1:c.2192A>T
ENST00000642611.1:n.5223A>T
ENST00000642902.1:c.3920A>T
ENST00000643260.1:c.4138A>T	ENSP00000494450.1:p.Thr1380Ser
ENST00000643562.1:c.*2260A>T	ENSP00000496124.1:n.*2260A>T
ENST00000643925.1:c.2778A>T
ENST00000644057.1:n.215A>T
ENST00000644484.1:c.*3524A>T	ENSP00000493558.1:n.*3524A>T
ENST00000644675.1:c.*2310A>T	ENSP00000494567.1:n.*2310A>T
ENST00000644757.1:c.*3202+352A>T	ENSP00000495085.1:n.*3202+352A>T
ENST00000644772.1:c.4204A>T	ENSP00000494321.1:p.Thr1402Ser
ENST00000645004.1:n.1831A>T
ENST00000645076.1:c.3337A>T
ENST00000645417.1:c.1326A>T
ENST00000645744.1:c.*3903A>T	ENSP00000494564.1:n.*3903A>T
ENST00000645760.1:c.4559A>T
ENST00000645884.1:c.*1421A>T	ENSP00000495516.1:n.*1421A>T
ENST00000646003.1:c.*2240A>T	ENSP00000495259.1:n.*2240A>T
ENST00000646207.1:c.*2975A>T	ENSP00000495025.1:n.*2975A>T
ENST00000646276.1:c.*3542A>T	ENSP00000496070.1:n.*3542A>T
ENST00000646592.1:c.3444A>T
ENST00000646902.1:c.4105A>T	ENSP00000494101.1:p.Thr1369Ser
ENST00000646993.1:c.*2680A>T	ENSP00000493720.1:n.*2680A>T
ENST00000647013.1:c.4144A>T	ENSP00000496741.1:n.4144A>T
ENST00000647015.1:c.3889A>T	ENSP00000495389.1:p.Thr1297Ser
ENST00000647086.1:c.*3724A>T	ENSP00000493677.1:n.*3724A>T
ENST00000647158.1:c.*2425A>T	ENSP00000495744.1:n.*2425A>T
ENST00000302539.8:c.4141A>T	ENSP00000303960.4:p.Thr1381Ser
ENST00000389817.7:c.4138A>T	ENSP00000374467.3:p.Thr1380Ser
ENST00000525022.1:n.4A>T
ENST00000526168.5:c.6A>T
NM_000352.4:c.4138A>T	NP_000343.2:p.Thr1380Ser
NM_001287174.1:c.4141A>T	NP_001274103.1:p.Thr1381Ser
XM_011520331.1:c.4138A>T	XP_011518633.1:p.Thr1380Ser
XM_011520332.1:c.4141A>T	XP_011518634.1:p.Thr1381Ser
XM_011520333.1:c.2638A>T	XP_011518635.1:p.Thr880Ser
XR_930890.1:n.4204A>T
NM_001351295.1:c.4204A>T	NP_001338224.1:p.Thr1402Ser
NM_001351296.1:c.4138A>T	NP_001338225.1:p.Thr1380Ser
NM_001351297.1:c.4135A>T	NP_001338226.1:p.Thr1379Ser
NR_147094.1:n.4433A>T
XM_017018197.2:c.4207A>T	XP_016873686.1:p.Thr1403Ser
XM_017018199.1:c.4204A>T	XP_016873688.1:p.Thr1402Ser
XM_017018201.2:c.4207A>T	XP_016873690.1:p.Thr1403Ser
XM_017018202.1:c.2704A>T	XP_016873691.1:p.Thr902Ser
XM_017018204.1:c.2095A>T	XP_016873693.1:p.Thr699Ser
XM_024448668.1:c.2506A>T	XP_024304436.1:p.Thr836Ser
XR_001747945.2:n.4279A>T
XR_001747946.2:n.4210A>T
XR_002957189.1:n.5860A>T
NM_000352.6:c.4138A>T MANE Select	NP_000343.2:p.Thr1380Ser
NM_001287174.2:c.4141A>T	NP_001274103.1:p.Thr1381Ser
NM_001351295.2:c.4204A>T	NP_001338224.1:p.Thr1402Ser
NM_001351296.2:c.4138A>T	NP_001338225.1:p.Thr1380Ser
NM_001351297.2:c.4135A>T	NP_001338226.1:p.Thr1379Ser
NR_147094.2:n.4433A>T
NM_001287174.3:c.4141A>T	NP_001274103.1:p.Thr1381Ser