Canonical Allele Identifier: CA379803272

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428490C>A (hg19) ; chr11:g.17406943C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406943C>A , CM000673.2:g.17406943C>A	GRCh38
NC_000011.9:g.17428490C>A , CM000673.1:g.17428490C>A	GRCh37
NC_000011.8:g.17385066C>A	NCBI36
NG_008867.1:g.74960G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.2676G>T
ENST00000529967.6:n.1446G>T
ENST00000532220.2:n.839G>T
ENST00000642611.2:n.3176G>T
ENST00000645004.2:n.606G>T
ENST00000682051.1:n.3123G>T
ENST00000682110.1:n.3176G>T
ENST00000682140.1:c.3104G>T	ENSP00000507829.1:p.Trp1035Leu
ENST00000682185.1:n.4412G>T
ENST00000682204.1:c.*1245G>T	ENSP00000507094.1:n.*1245G>T
ENST00000682215.1:n.3173G>T
ENST00000682288.1:c.*1538G>T	ENSP00000507506.1:n.*1538G>T
ENST00000682442.1:n.3297G>T
ENST00000682528.1:n.3253G>T
ENST00000682673.1:n.3120G>T
ENST00000682805.1:n.3173G>T
ENST00000682965.1:c.3104G>T	ENSP00000508229.1:p.Trp1035Leu
ENST00000683093.1:n.3275G>T
ENST00000683136.1:c.3104G>T	ENSP00000507768.1:p.Trp1035Leu
ENST00000683153.1:n.3332G>T
ENST00000683365.1:n.3278G>T
ENST00000683377.1:n.3176G>T
ENST00000683456.1:c.*244G>T	ENSP00000508318.1:n.*244G>T
ENST00000683522.1:n.3176G>T
ENST00000683562.1:c.*1276G>T	ENSP00000508265.1:n.*1276G>T
ENST00000683693.1:n.3253G>T
ENST00000683725.1:c.3107G>T	ENSP00000507496.1:p.Trp1036Leu
ENST00000684010.1:n.3171G>T
ENST00000684157.1:n.3176G>T
ENST00000684253.1:n.3079G>T
ENST00000684288.1:c.*1279G>T	ENSP00000507143.1:n.*1279G>T
ENST00000684313.1:n.2608G>T
ENST00000684332.1:n.3249G>T
ENST00000684371.1:n.3282G>T
ENST00000684404.1:n.3219G>T
ENST00000684442.1:n.3176G>T
ENST00000684555.1:c.*1319G>T	ENSP00000507705.1:n.*1319G>T
ENST00000684571.1:c.2948G>T	ENSP00000506935.1:p.Trp983Leu
ENST00000684593.1:c.*2812G>T	ENSP00000507005.1:n.*2812G>T
ENST00000684711.1:c.*1503G>T	ENSP00000506841.1:n.*1503G>T
ENST00000302539.9:c.3110G>T	ENSP00000303960.4:p.Trp1037Leu
ENST00000389817.8:c.3107G>T MANE Select	ENSP00000374467.4:p.Trp1036Leu
ENST00000642271.1:c.3104G>T	ENSP00000493749.1:p.Trp1035Leu
ENST00000642579.1:c.1191G>T
ENST00000642611.1:n.3061G>T
ENST00000642902.1:c.2889G>T
ENST00000643260.1:c.3107G>T	ENSP00000494450.1:p.Trp1036Leu
ENST00000643562.1:c.*1083G>T	ENSP00000496124.1:n.*1083G>T
ENST00000643925.1:c.1231G>T
ENST00000644447.1:c.1463G>T	ENSP00000496282.1:p.Trp488Leu
ENST00000644484.1:c.*1362G>T	ENSP00000493558.1:n.*1362G>T
ENST00000644542.1:c.*2812G>T	ENSP00000495532.1:n.*2812G>T
ENST00000644675.1:c.*1279G>T	ENSP00000494567.1:n.*1279G>T
ENST00000644757.1:c.*1392G>T	ENSP00000495085.1:n.*1392G>T
ENST00000644772.1:c.3173G>T	ENSP00000494321.1:p.Trp1058Leu
ENST00000645004.1:n.246G>T
ENST00000645076.1:c.2306G>T
ENST00000645417.1:c.273G>T
ENST00000645744.1:c.*1371G>T	ENSP00000494564.1:n.*1371G>T
ENST00000645760.1:c.3382G>T
ENST00000645884.1:c.*244G>T	ENSP00000495516.1:n.*244G>T
ENST00000646003.1:c.*1063G>T	ENSP00000495259.1:n.*1063G>T
ENST00000646207.1:c.*1574G>T	ENSP00000495025.1:n.*1574G>T
ENST00000646276.1:c.*1380G>T	ENSP00000496070.1:n.*1380G>T
ENST00000646592.1:c.2413G>T
ENST00000646902.1:c.3104G>T	ENSP00000494101.1:p.Trp1035Leu
ENST00000646993.1:c.*1503G>T	ENSP00000493720.1:n.*1503G>T
ENST00000647013.1:c.3113G>T	ENSP00000496741.1:n.3113G>T
ENST00000647015.1:c.2858G>T	ENSP00000495389.1:p.Trp953Leu
ENST00000647086.1:c.*2837G>T	ENSP00000493677.1:n.*2837G>T
ENST00000647158.1:c.*1248G>T	ENSP00000495744.1:n.*1248G>T
ENST00000302539.8:c.3110G>T	ENSP00000303960.4:p.Trp1037Leu
ENST00000389817.7:c.3107G>T	ENSP00000374467.3:p.Trp1036Leu
ENST00000524561.1:n.239G>T
ENST00000526921.5:n.791G>T
ENST00000527905.5:c.2977G>T	ENSP00000431653.1:p.Gly993Ter
ENST00000529967.5:n.776G>T
NM_000352.4:c.3107G>T	NP_000343.2:p.Trp1036Leu
NM_001287174.1:c.3110G>T	NP_001274103.1:p.Trp1037Leu
XM_011520331.1:c.3107G>T	XP_011518633.1:p.Trp1036Leu
XM_011520332.1:c.3110G>T	XP_011518634.1:p.Trp1037Leu
XM_011520333.1:c.1607G>T	XP_011518635.1:p.Trp536Leu
XR_930890.1:n.3173G>T
XR_930891.1:n.3173G>T
XR_930892.1:n.3073G>T
XR_930893.1:n.3070G>T
NM_001351295.1:c.3173G>T	NP_001338224.1:p.Trp1058Leu
NM_001351296.1:c.3107G>T	NP_001338225.1:p.Trp1036Leu
NM_001351297.1:c.3104G>T	NP_001338226.1:p.Trp1035Leu
NR_147094.1:n.3256G>T
XM_017018197.2:c.3176G>T	XP_016873686.1:p.Trp1059Leu
XM_017018199.1:c.3173G>T	XP_016873688.1:p.Trp1058Leu
XM_017018201.2:c.3176G>T	XP_016873690.1:p.Trp1059Leu
XM_017018202.1:c.1673G>T	XP_016873691.1:p.Trp558Leu
XM_017018204.1:c.1064G>T	XP_016873693.1:p.Trp355Leu
XM_024448668.1:c.1475G>T	XP_024304436.1:p.Trp492Leu
XR_001747945.2:n.3248G>T
XR_001747946.2:n.3179G>T
XR_002957189.1:n.3328G>T
NM_000352.6:c.3107G>T MANE Select	NP_000343.2:p.Trp1036Leu
NM_001287174.2:c.3110G>T	NP_001274103.1:p.Trp1037Leu
NM_001351295.2:c.3173G>T	NP_001338224.1:p.Trp1058Leu
NM_001351296.2:c.3107G>T	NP_001338225.1:p.Trp1036Leu
NM_001351297.2:c.3104G>T	NP_001338226.1:p.Trp1035Leu
NR_147094.2:n.3256G>T
NM_001287174.3:c.3110G>T	NP_001274103.1:p.Trp1037Leu