Canonical Allele Identifier: CA379787724

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395855-C-A
• MyVariant Identifiers: chr11:g.17417402C>A (hg19) ; chr11:g.17395855C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395855C>A , CM000673.2:g.17395855C>A	GRCh38
NC_000011.9:g.17417402C>A , CM000673.1:g.17417402C>A	GRCh37
NC_000011.8:g.17373978C>A	NCBI36
NG_008867.1:g.86048G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3796G>T
ENST00000528374.2:c.786G>T
ENST00000529967.6:n.2534G>T
ENST00000532220.2:n.3428G>T
ENST00000642611.2:n.5395G>T
ENST00000644057.2:n.638G>T
ENST00000645004.2:n.1694G>T
ENST00000682051.1:n.4357G>T
ENST00000682110.1:n.4410G>T
ENST00000682140.1:c.4061G>T	ENSP00000507829.1:p.Arg1354Leu
ENST00000682185.1:n.5500G>T
ENST00000682204.1:c.*2333G>T	ENSP00000507094.1:n.*2333G>T
ENST00000682215.1:n.4777G>T
ENST00000682288.1:c.*2626G>T	ENSP00000507506.1:n.*2626G>T
ENST00000682442.1:n.4630G>T
ENST00000682528.1:n.4487G>T
ENST00000682673.1:n.4354G>T
ENST00000682805.1:n.4815G>T
ENST00000682965.1:c.*617G>T	ENSP00000508229.1:n.*617G>T
ENST00000683093.1:n.5494G>T
ENST00000683136.1:c.4078G>T	ENSP00000507768.1:p.Glu1360Ter
ENST00000683153.1:n.4452G>T
ENST00000683365.1:n.4512G>T
ENST00000683377.1:n.4410G>T
ENST00000683456.1:c.*1332G>T	ENSP00000508318.1:n.*1332G>T
ENST00000683522.1:n.4410G>T
ENST00000683562.1:c.*2364G>T	ENSP00000508265.1:n.*2364G>T
ENST00000683693.1:n.5842G>T
ENST00000683725.1:c.4195G>T	ENSP00000507496.1:p.Glu1399Ter
ENST00000684010.1:n.4405G>T
ENST00000684157.1:n.5395G>T
ENST00000684253.1:n.4313G>T
ENST00000684288.1:c.*2367G>T	ENSP00000507143.1:n.*2367G>T
ENST00000684313.1:n.3842G>T
ENST00000684332.1:n.4483G>T
ENST00000684371.1:n.4516G>T
ENST00000684404.1:n.5438G>T
ENST00000684442.1:n.4634G>T
ENST00000684555.1:c.*2407G>T	ENSP00000507705.1:n.*2407G>T
ENST00000684571.1:c.4036G>T	ENSP00000506935.1:p.Glu1346Ter
ENST00000684593.1:c.*3900G>T	ENSP00000507005.1:n.*3900G>T
ENST00000684711.1:c.*2591G>T	ENSP00000506841.1:n.*2591G>T
ENST00000302539.9:c.4198G>T	ENSP00000303960.4:p.Glu1400Ter
ENST00000389817.8:c.4195G>T MANE Select	ENSP00000374467.4:p.Glu1399Ter
ENST00000642271.1:c.4192G>T	ENSP00000493749.1:p.Glu1398Ter
ENST00000642579.1:c.2249G>T
ENST00000642611.1:n.5280G>T
ENST00000642902.1:c.3977G>T
ENST00000643260.1:c.4195G>T	ENSP00000494450.1:p.Glu1399Ter
ENST00000643562.1:c.*2317G>T	ENSP00000496124.1:n.*2317G>T
ENST00000643925.1:c.2835G>T
ENST00000644057.1:n.272G>T
ENST00000644484.1:c.*3581G>T	ENSP00000493558.1:n.*3581G>T
ENST00000644675.1:c.*2367G>T	ENSP00000494567.1:n.*2367G>T
ENST00000644757.1:c.*3202+409G>T	ENSP00000495085.1:n.*3202+409G>T
ENST00000644772.1:c.4261G>T	ENSP00000494321.1:p.Glu1421Ter
ENST00000645004.1:n.1888G>T
ENST00000645076.1:c.3394G>T
ENST00000645417.1:c.1383G>T
ENST00000645744.1:c.*3960G>T	ENSP00000494564.1:n.*3960G>T
ENST00000645760.1:c.4616G>T
ENST00000645884.1:c.*1478G>T	ENSP00000495516.1:n.*1478G>T
ENST00000646003.1:c.*2297G>T	ENSP00000495259.1:n.*2297G>T
ENST00000646207.1:c.*3032G>T	ENSP00000495025.1:n.*3032G>T
ENST00000646276.1:c.*3599G>T	ENSP00000496070.1:n.*3599G>T
ENST00000646592.1:c.3501G>T
ENST00000646902.1:c.4162G>T	ENSP00000494101.1:p.Glu1388Ter
ENST00000646993.1:c.*2737G>T	ENSP00000493720.1:n.*2737G>T
ENST00000647013.1:c.4201G>T	ENSP00000496741.1:n.4201G>T
ENST00000647015.1:c.3946G>T	ENSP00000495389.1:p.Glu1316Ter
ENST00000647086.1:c.*3781G>T	ENSP00000493677.1:n.*3781G>T
ENST00000647158.1:c.*2482G>T	ENSP00000495744.1:n.*2482G>T
ENST00000302539.8:c.4198G>T	ENSP00000303960.4:p.Glu1400Ter
ENST00000389817.7:c.4195G>T	ENSP00000374467.3:p.Glu1399Ter
ENST00000525022.1:n.61G>T
ENST00000526168.5:c.63G>T
ENST00000531642.5:c.31G>T
NM_000352.4:c.4195G>T	NP_000343.2:p.Glu1399Ter
NM_001287174.1:c.4198G>T	NP_001274103.1:p.Glu1400Ter
XM_011520331.1:c.4195G>T	XP_011518633.1:p.Glu1399Ter
XM_011520332.1:c.4198G>T	XP_011518634.1:p.Glu1400Ter
XM_011520333.1:c.2695G>T	XP_011518635.1:p.Glu899Ter
XR_930890.1:n.4261G>T
NM_001351295.1:c.4261G>T	NP_001338224.1:p.Glu1421Ter
NM_001351296.1:c.4195G>T	NP_001338225.1:p.Glu1399Ter
NM_001351297.1:c.4192G>T	NP_001338226.1:p.Glu1398Ter
NR_147094.1:n.4490G>T
XM_017018197.2:c.4264G>T	XP_016873686.1:p.Glu1422Ter
XM_017018199.1:c.4261G>T	XP_016873688.1:p.Glu1421Ter
XM_017018201.2:c.4264G>T	XP_016873690.1:p.Glu1422Ter
XM_017018202.1:c.2761G>T	XP_016873691.1:p.Glu921Ter
XM_017018204.1:c.2152G>T	XP_016873693.1:p.Glu718Ter
XM_024448668.1:c.2563G>T	XP_024304436.1:p.Glu855Ter
XR_001747945.2:n.4336G>T
XR_001747946.2:n.4267G>T
XR_002957189.1:n.5917G>T
NM_000352.6:c.4195G>T MANE Select	NP_000343.2:p.Glu1399Ter
NM_001287174.2:c.4198G>T	NP_001274103.1:p.Glu1400Ter
NM_001351295.2:c.4261G>T	NP_001338224.1:p.Glu1421Ter
NM_001351296.2:c.4195G>T	NP_001338225.1:p.Glu1399Ter
NM_001351297.2:c.4192G>T	NP_001338226.1:p.Glu1398Ter
NR_147094.2:n.4490G>T
NM_001287174.3:c.4198G>T	NP_001274103.1:p.Glu1400Ter