Canonical Allele Identifier: CA218417245

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 706690
• ClinVar RCV Id: RCV002454050 ; RCV004541763 ; RCV000877386
• dbSNP Id: rs142155036
• gnomAD v2: 11-17426100-G-A
• gnomAD v3: 11-17404553-G-A
• gnomAD v4: 11-17404553-G-A
• COSMIC: COSM2091609
• MyVariant Identifiers: chr11:g.17426100G>A (hg19) ; chr11:g.17404553G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404553G>A , CM000673.2:g.17404553G>A	GRCh38
NC_000011.9:g.17426100G>A , CM000673.1:g.17426100G>A	GRCh37
NC_000011.8:g.17382676G>A	NCBI36
NG_008867.1:g.77350C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3085C>T
ENST00000528374.2:c.95C>T
ENST00000529967.6:n.1855C>T
ENST00000532220.2:n.1248C>T
ENST00000642611.2:n.3585C>T
ENST00000645004.2:n.1015C>T
ENST00000682051.1:n.3532C>T
ENST00000682110.1:n.3585C>T
ENST00000682140.1:c.3513C>T	ENSP00000507829.1:p.Ile1171=
ENST00000682185.1:n.4821C>T
ENST00000682204.1:c.*1654C>T	ENSP00000507094.1:n.*1654C>T
ENST00000682215.1:n.3582C>T
ENST00000682288.1:c.*1947C>T	ENSP00000507506.1:n.*1947C>T
ENST00000682442.1:n.3805C>T
ENST00000682528.1:n.3662C>T
ENST00000682673.1:n.3529C>T
ENST00000682805.1:n.3582C>T
ENST00000682965.1:c.3396+941C>T	ENSP00000508229.1:n.3396+941C>T
ENST00000683093.1:n.3684C>T
ENST00000683136.1:c.3513C>T	ENSP00000507768.1:p.Ile1171=
ENST00000683153.1:n.3741C>T
ENST00000683365.1:n.3687C>T
ENST00000683377.1:n.3585C>T
ENST00000683456.1:c.*653C>T	ENSP00000508318.1:n.*653C>T
ENST00000683522.1:n.3585C>T
ENST00000683562.1:c.*1685C>T	ENSP00000508265.1:n.*1685C>T
ENST00000683693.1:n.3662C>T
ENST00000683725.1:c.3516C>T	ENSP00000507496.1:p.Ile1172=
ENST00000684010.1:n.3580C>T
ENST00000684157.1:n.3585C>T
ENST00000684253.1:n.3488C>T
ENST00000684288.1:c.*1688C>T	ENSP00000507143.1:n.*1688C>T
ENST00000684313.1:n.3017C>T
ENST00000684332.1:n.3658C>T
ENST00000684371.1:n.3691C>T
ENST00000684404.1:n.3628C>T
ENST00000684442.1:n.3585C>T
ENST00000684555.1:c.*1728C>T	ENSP00000507705.1:n.*1728C>T
ENST00000684571.1:c.3357C>T	ENSP00000506935.1:p.Ile1119=
ENST00000684593.1:c.*3221C>T	ENSP00000507005.1:n.*3221C>T
ENST00000684711.1:c.*1912C>T	ENSP00000506841.1:n.*1912C>T
ENST00000302539.9:c.3519C>T	ENSP00000303960.4:p.Ile1173=
ENST00000389817.8:c.3516C>T MANE Select	ENSP00000374467.4:p.Ile1172=
ENST00000642271.1:c.3513C>T	ENSP00000493749.1:p.Ile1171=
ENST00000642579.1:c.1600C>T
ENST00000642611.1:n.3470C>T
ENST00000642902.1:c.3298C>T
ENST00000643260.1:c.3516C>T	ENSP00000494450.1:p.Ile1172=
ENST00000643562.1:c.*1492C>T	ENSP00000496124.1:n.*1492C>T
ENST00000643925.1:c.1640C>T
ENST00000644447.1:c.1872C>T	ENSP00000496282.1:p.Ile624=
ENST00000644484.1:c.*1771C>T	ENSP00000493558.1:n.*1771C>T
ENST00000644675.1:c.*1688C>T	ENSP00000494567.1:n.*1688C>T
ENST00000644757.1:c.*1801C>T	ENSP00000495085.1:n.*1801C>T
ENST00000644772.1:c.3582C>T	ENSP00000494321.1:p.Ile1194=
ENST00000645004.1:n.655C>T
ENST00000645076.1:c.2715C>T
ENST00000645417.1:c.682C>T
ENST00000645744.1:c.*1780C>T	ENSP00000494564.1:n.*1780C>T
ENST00000645760.1:c.3791C>T
ENST00000645884.1:c.*653C>T	ENSP00000495516.1:n.*653C>T
ENST00000646003.1:c.*1472C>T	ENSP00000495259.1:n.*1472C>T
ENST00000646207.1:c.*1983C>T	ENSP00000495025.1:n.*1983C>T
ENST00000646276.1:c.*1789C>T	ENSP00000496070.1:n.*1789C>T
ENST00000646592.1:c.2822C>T
ENST00000646902.1:c.3513C>T	ENSP00000494101.1:p.Ile1171=
ENST00000646993.1:c.*1912C>T	ENSP00000493720.1:n.*1912C>T
ENST00000647013.1:c.3522C>T	ENSP00000496741.1:n.3522C>T
ENST00000647015.1:c.3267C>T	ENSP00000495389.1:p.Ile1089=
ENST00000647086.1:c.*3246C>T	ENSP00000493677.1:n.*3246C>T
ENST00000647158.1:c.*1657C>T	ENSP00000495744.1:n.*1657C>T
ENST00000302539.8:c.3519C>T	ENSP00000303960.4:p.Ile1173=
ENST00000389817.7:c.3516C>T	ENSP00000374467.3:p.Ile1172=
ENST00000524561.1:n.648C>T
ENST00000527905.5:c.*392C>T	ENSP00000431653.1:n.*392C>T
ENST00000531137.1:n.9C>T
NM_000352.4:c.3516C>T	NP_000343.2:p.Ile1172=
NM_001287174.1:c.3519C>T	NP_001274103.1:p.Ile1173=
XM_011520331.1:c.3516C>T	XP_011518633.1:p.Ile1172=
XM_011520332.1:c.3519C>T	XP_011518634.1:p.Ile1173=
XM_011520333.1:c.2016C>T	XP_011518635.1:p.Ile672=
XR_930890.1:n.3582C>T
XR_930892.1:n.3482C>T
XR_930893.1:n.3479C>T
NM_001351295.1:c.3582C>T	NP_001338224.1:p.Ile1194=
NM_001351296.1:c.3516C>T	NP_001338225.1:p.Ile1172=
NM_001351297.1:c.3513C>T	NP_001338226.1:p.Ile1171=
NR_147094.1:n.3665C>T
XM_017018197.2:c.3585C>T	XP_016873686.1:p.Ile1195=
XM_017018199.1:c.3582C>T	XP_016873688.1:p.Ile1194=
XM_017018201.2:c.3585C>T	XP_016873690.1:p.Ile1195=
XM_017018202.1:c.2082C>T	XP_016873691.1:p.Ile694=
XM_017018204.1:c.1473C>T	XP_016873693.1:p.Ile491=
XM_024448668.1:c.1884C>T	XP_024304436.1:p.Ile628=
XR_001747945.2:n.3657C>T
XR_001747946.2:n.3588C>T
XR_002957189.1:n.3737C>T
NM_000352.6:c.3516C>T MANE Select	NP_000343.2:p.Ile1172=
NM_001287174.2:c.3519C>T	NP_001274103.1:p.Ile1173=
NM_001351295.2:c.3582C>T	NP_001338224.1:p.Ile1194=
NM_001351296.2:c.3516C>T	NP_001338225.1:p.Ile1172=
NM_001351297.2:c.3513C>T	NP_001338226.1:p.Ile1171=
NR_147094.2:n.3665C>T
NM_001287174.3:c.3519C>T	NP_001274103.1:p.Ile1173=