Canonical Allele Identifier: CA379791078

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17397021-C-A
• MyVariant Identifiers: chr11:g.17418568C>A (hg19) ; chr11:g.17397021C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397021C>A , CM000673.2:g.17397021C>A	GRCh38
NC_000011.9:g.17418568C>A , CM000673.1:g.17418568C>A	GRCh37
NC_000011.8:g.17375144C>A	NCBI36
NG_008867.1:g.84882G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3615G>T
ENST00000528374.2:c.605G>T
ENST00000529967.6:n.2353G>T
ENST00000532220.2:n.2262G>T
ENST00000642611.2:n.4229G>T
ENST00000644057.2:n.457G>T
ENST00000645004.2:n.1513G>T
ENST00000682051.1:n.4176G>T
ENST00000682110.1:n.4229G>T
ENST00000682140.1:c.3985+172G>T	ENSP00000507829.1:n.3985+172G>T
ENST00000682185.1:n.5319G>T
ENST00000682204.1:c.*2152G>T	ENSP00000507094.1:n.*2152G>T
ENST00000682215.1:n.4596G>T
ENST00000682288.1:c.*2445G>T	ENSP00000507506.1:n.*2445G>T
ENST00000682442.1:n.4449G>T
ENST00000682528.1:n.4306G>T
ENST00000682673.1:n.4173G>T
ENST00000682805.1:n.4596G>T
ENST00000682965.1:c.*436G>T	ENSP00000508229.1:n.*436G>T
ENST00000683093.1:n.4328G>T
ENST00000683136.1:c.3897G>T	ENSP00000507768.1:p.Trp1299Cys
ENST00000683153.1:n.4271G>T
ENST00000683365.1:n.4331G>T
ENST00000683377.1:n.4229G>T
ENST00000683456.1:c.*1151G>T	ENSP00000508318.1:n.*1151G>T
ENST00000683522.1:n.4229G>T
ENST00000683562.1:c.*2183G>T	ENSP00000508265.1:n.*2183G>T
ENST00000683693.1:n.4676G>T
ENST00000683725.1:c.4014G>T	ENSP00000507496.1:p.Trp1338Cys
ENST00000684010.1:n.4224G>T
ENST00000684157.1:n.4229G>T
ENST00000684253.1:n.4132G>T
ENST00000684288.1:c.*2186G>T	ENSP00000507143.1:n.*2186G>T
ENST00000684313.1:n.3661G>T
ENST00000684332.1:n.4302G>T
ENST00000684371.1:n.4335G>T
ENST00000684404.1:n.4272G>T
ENST00000684442.1:n.4453G>T
ENST00000684555.1:c.*2226G>T	ENSP00000507705.1:n.*2226G>T
ENST00000684571.1:c.3855G>T	ENSP00000506935.1:p.Trp1285Cys
ENST00000684593.1:c.*3719G>T	ENSP00000507005.1:n.*3719G>T
ENST00000684711.1:c.*2410G>T	ENSP00000506841.1:n.*2410G>T
ENST00000302539.9:c.4017G>T	ENSP00000303960.4:p.Trp1339Cys
ENST00000389817.8:c.4014G>T MANE Select	ENSP00000374467.4:p.Trp1338Cys
ENST00000642271.1:c.4011G>T	ENSP00000493749.1:p.Trp1337Cys
ENST00000642579.1:c.2073-5G>T
ENST00000642611.1:n.4114G>T
ENST00000642902.1:c.3796G>T
ENST00000643260.1:c.4014G>T	ENSP00000494450.1:p.Trp1338Cys
ENST00000643562.1:c.*2136G>T	ENSP00000496124.1:n.*2136G>T
ENST00000643925.1:c.2654G>T
ENST00000644057.1:n.91G>T
ENST00000644484.1:c.*2415G>T	ENSP00000493558.1:n.*2415G>T
ENST00000644675.1:c.*2186G>T	ENSP00000494567.1:n.*2186G>T
ENST00000644757.1:c.*2445G>T	ENSP00000495085.1:n.*2445G>T
ENST00000644772.1:c.4080G>T	ENSP00000494321.1:p.Trp1360Cys
ENST00000645004.1:n.1669G>T
ENST00000645076.1:c.3213G>T
ENST00000645417.1:c.1202G>T
ENST00000645744.1:c.*2794G>T	ENSP00000494564.1:n.*2794G>T
ENST00000645760.1:c.4435G>T
ENST00000645884.1:c.*1297G>T	ENSP00000495516.1:n.*1297G>T
ENST00000646003.1:c.*2116G>T	ENSP00000495259.1:n.*2116G>T
ENST00000646207.1:c.*2851G>T	ENSP00000495025.1:n.*2851G>T
ENST00000646276.1:c.*2433G>T	ENSP00000496070.1:n.*2433G>T
ENST00000646592.1:c.3320G>T
ENST00000646902.1:c.3986-5G>T	ENSP00000494101.1:n.3986-5G>T
ENST00000646993.1:c.*2556G>T	ENSP00000493720.1:n.*2556G>T
ENST00000647013.1:c.4020G>T	ENSP00000496741.1:n.4020G>T
ENST00000647015.1:c.3765G>T	ENSP00000495389.1:p.Trp1255Cys
ENST00000647086.1:c.*3605-5G>T	ENSP00000493677.1:n.*3605-5G>T
ENST00000647158.1:c.*2301G>T	ENSP00000495744.1:n.*2301G>T
ENST00000302539.8:c.4017G>T	ENSP00000303960.4:p.Trp1339Cys
ENST00000389817.7:c.4014G>T	ENSP00000374467.3:p.Trp1338Cys
ENST00000527905.5:c.*1036G>T	ENSP00000431653.1:n.*1036G>T
ENST00000528374.1:c.496G>T
ENST00000531137.1:n.579G>T
ENST00000531891.1:c.357-5G>T
ENST00000532220.1:n.488G>T
NM_000352.4:c.4014G>T	NP_000343.2:p.Trp1338Cys
NM_001287174.1:c.4017G>T	NP_001274103.1:p.Trp1339Cys
XM_011520331.1:c.4014G>T	XP_011518633.1:p.Trp1338Cys
XM_011520332.1:c.4017G>T	XP_011518634.1:p.Trp1339Cys
XM_011520333.1:c.2514G>T	XP_011518635.1:p.Trp838Cys
XR_930890.1:n.4080G>T
NM_001351295.1:c.4080G>T	NP_001338224.1:p.Trp1360Cys
NM_001351296.1:c.4014G>T	NP_001338225.1:p.Trp1338Cys
NM_001351297.1:c.4011G>T	NP_001338226.1:p.Trp1337Cys
NR_147094.1:n.4309G>T
XM_017018197.2:c.4083G>T	XP_016873686.1:p.Trp1361Cys
XM_017018199.1:c.4080G>T	XP_016873688.1:p.Trp1360Cys
XM_017018201.2:c.4083G>T	XP_016873690.1:p.Trp1361Cys
XM_017018202.1:c.2580G>T	XP_016873691.1:p.Trp860Cys
XM_017018204.1:c.1971G>T	XP_016873693.1:p.Trp657Cys
XM_024448668.1:c.2382G>T	XP_024304436.1:p.Trp794Cys
XR_001747945.2:n.4155G>T
XR_001747946.2:n.4086G>T
XR_002957189.1:n.4751G>T
NM_000352.6:c.4014G>T MANE Select	NP_000343.2:p.Trp1338Cys
NM_001287174.2:c.4017G>T	NP_001274103.1:p.Trp1339Cys
NM_001351295.2:c.4080G>T	NP_001338224.1:p.Trp1360Cys
NM_001351296.2:c.4014G>T	NP_001338225.1:p.Trp1338Cys
NM_001351297.2:c.4011G>T	NP_001338226.1:p.Trp1337Cys
NR_147094.2:n.4309G>T
NM_001287174.3:c.4017G>T	NP_001274103.1:p.Trp1339Cys