Canonical Allele Identifier: CA379787221

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395701-C-T
• MyVariant Identifiers: chr11:g.17417248C>T (hg19) ; chr11:g.17395701C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395701C>T , CM000673.2:g.17395701C>T	GRCh38
NC_000011.9:g.17417248C>T , CM000673.1:g.17417248C>T	GRCh37
NC_000011.8:g.17373824C>T	NCBI36
NG_008867.1:g.86202G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3817G>A
ENST00000528374.2:c.807G>A
ENST00000529967.6:n.2555G>A
ENST00000532220.2:n.3449G>A
ENST00000642611.2:n.5549G>A
ENST00000644057.2:n.792G>A
ENST00000645004.2:n.1715G>A
ENST00000682051.1:n.4378G>A
ENST00000682110.1:n.4431G>A
ENST00000682140.1:c.*2G>A	ENSP00000507829.1:n.*2G>A
ENST00000682185.1:n.5521G>A
ENST00000682204.1:c.*2354G>A	ENSP00000507094.1:n.*2354G>A
ENST00000682215.1:n.4798G>A
ENST00000682288.1:c.*2647G>A	ENSP00000507506.1:n.*2647G>A
ENST00000682442.1:n.4651G>A
ENST00000682528.1:n.4508G>A
ENST00000682673.1:n.4375G>A
ENST00000682805.1:n.4836G>A
ENST00000682965.1:c.*638G>A	ENSP00000508229.1:n.*638G>A
ENST00000683093.1:n.5515G>A
ENST00000683136.1:c.4099G>A	ENSP00000507768.1:p.Gly1367Ser
ENST00000683153.1:n.4473G>A
ENST00000683365.1:n.4533G>A
ENST00000683377.1:n.4431G>A
ENST00000683456.1:c.*1353G>A	ENSP00000508318.1:n.*1353G>A
ENST00000683522.1:n.4431G>A
ENST00000683562.1:c.*2385G>A	ENSP00000508265.1:n.*2385G>A
ENST00000683693.1:n.5996G>A
ENST00000683725.1:c.4216G>A	ENSP00000507496.1:p.Gly1406Ser
ENST00000684010.1:n.4426G>A
ENST00000684157.1:n.5416G>A
ENST00000684253.1:n.4334G>A
ENST00000684288.1:c.*2388G>A	ENSP00000507143.1:n.*2388G>A
ENST00000684313.1:n.3863G>A
ENST00000684332.1:n.4504G>A
ENST00000684371.1:n.4537G>A
ENST00000684404.1:n.5459G>A
ENST00000684442.1:n.4655G>A
ENST00000684555.1:c.*2428G>A	ENSP00000507705.1:n.*2428G>A
ENST00000684571.1:c.4057G>A	ENSP00000506935.1:p.Gly1353Ser
ENST00000684593.1:c.*3921G>A	ENSP00000507005.1:n.*3921G>A
ENST00000684711.1:c.*2612G>A	ENSP00000506841.1:n.*2612G>A
ENST00000302539.9:c.4219G>A	ENSP00000303960.4:p.Gly1407Ser
ENST00000389817.8:c.4216G>A MANE Select	ENSP00000374467.4:p.Gly1406Ser
ENST00000642271.1:c.4213G>A	ENSP00000493749.1:p.Gly1405Ser
ENST00000642579.1:c.2270G>A
ENST00000642611.1:n.5434G>A
ENST00000642902.1:c.3998G>A
ENST00000643260.1:c.4216G>A	ENSP00000494450.1:p.Gly1406Ser
ENST00000643562.1:c.*2338G>A	ENSP00000496124.1:n.*2338G>A
ENST00000643925.1:c.2856G>A
ENST00000644057.1:n.293G>A
ENST00000644484.1:c.*3602G>A	ENSP00000493558.1:n.*3602G>A
ENST00000644675.1:c.*2388G>A	ENSP00000494567.1:n.*2388G>A
ENST00000644757.1:c.*3202+563G>A	ENSP00000495085.1:n.*3202+563G>A
ENST00000644772.1:c.4282G>A	ENSP00000494321.1:p.Gly1428Ser
ENST00000645004.1:n.1909G>A
ENST00000645076.1:c.3415G>A
ENST00000645417.1:c.1404G>A
ENST00000645744.1:c.*3964-63G>A	ENSP00000494564.1:n.*3964-63G>A
ENST00000645760.1:c.4637G>A
ENST00000645884.1:c.*1499G>A	ENSP00000495516.1:n.*1499G>A
ENST00000646003.1:c.*2301-63G>A	ENSP00000495259.1:n.*2301-63G>A
ENST00000646207.1:c.*3053G>A	ENSP00000495025.1:n.*3053G>A
ENST00000646276.1:c.*3620G>A	ENSP00000496070.1:n.*3620G>A
ENST00000646592.1:c.3522G>A
ENST00000646902.1:c.4183G>A	ENSP00000494101.1:p.Gly1395Ser
ENST00000646993.1:c.*2758G>A	ENSP00000493720.1:n.*2758G>A
ENST00000647013.1:c.4222G>A	ENSP00000496741.1:n.4222G>A
ENST00000647015.1:c.3967G>A	ENSP00000495389.1:p.Gly1323Ser
ENST00000647086.1:c.*3802G>A	ENSP00000493677.1:n.*3802G>A
ENST00000647158.1:c.*2503G>A	ENSP00000495744.1:n.*2503G>A
ENST00000302539.8:c.4219G>A	ENSP00000303960.4:p.Gly1407Ser
ENST00000389817.7:c.4216G>A	ENSP00000374467.3:p.Gly1406Ser
ENST00000525022.1:n.215G>A
ENST00000526037.5:n.80G>A
ENST00000526168.5:c.67-63G>A
ENST00000531642.5:c.52G>A
NM_000352.4:c.4216G>A	NP_000343.2:p.Gly1406Ser
NM_001287174.1:c.4219G>A	NP_001274103.1:p.Gly1407Ser
XM_011520331.1:c.4216G>A	XP_011518633.1:p.Gly1406Ser
XM_011520332.1:c.4219G>A	XP_011518634.1:p.Gly1407Ser
XM_011520333.1:c.2716G>A	XP_011518635.1:p.Gly906Ser
XR_930890.1:n.4282G>A
NM_001351295.1:c.4282G>A	NP_001338224.1:p.Gly1428Ser
NM_001351296.1:c.4216G>A	NP_001338225.1:p.Gly1406Ser
NM_001351297.1:c.4213G>A	NP_001338226.1:p.Gly1405Ser
NR_147094.1:n.4511G>A
XM_017018197.2:c.4285G>A	XP_016873686.1:p.Gly1429Ser
XM_017018199.1:c.4282G>A	XP_016873688.1:p.Gly1428Ser
XM_017018201.2:c.4285G>A	XP_016873690.1:p.Gly1429Ser
XM_017018202.1:c.2782G>A	XP_016873691.1:p.Gly928Ser
XM_017018204.1:c.2173G>A	XP_016873693.1:p.Gly725Ser
XM_024448668.1:c.2584G>A	XP_024304436.1:p.Gly862Ser
XR_001747945.2:n.4357G>A
XR_001747946.2:n.4288G>A
XR_002957189.1:n.6071G>A
NM_000352.6:c.4216G>A MANE Select	NP_000343.2:p.Gly1406Ser
NM_001287174.2:c.4219G>A	NP_001274103.1:p.Gly1407Ser
NM_001351295.2:c.4282G>A	NP_001338224.1:p.Gly1428Ser
NM_001351296.2:c.4216G>A	NP_001338225.1:p.Gly1406Ser
NM_001351297.2:c.4213G>A	NP_001338226.1:p.Gly1405Ser
NR_147094.2:n.4511G>A
NM_001287174.3:c.4219G>A	NP_001274103.1:p.Gly1407Ser