Canonical Allele Identifier: CA473516005

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2971752
• ClinVar RCV Id: RCV003832814
• dbSNP Id: rs1251688793
• gnomAD v2: 11-17428327-G-A
• gnomAD v4: 11-17406780-G-A
• MyVariant Identifiers: chr11:g.17428327G>A (hg19) ; chr11:g.17406780G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406780G>A , CM000673.2:g.17406780G>A	GRCh38
NC_000011.9:g.17428327G>A , CM000673.1:g.17428327G>A	GRCh37
NC_000011.8:g.17384903G>A	NCBI36
NG_008867.1:g.75123C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2740C>T
ENST00000529967.6:n.1510C>T
ENST00000532220.2:n.903C>T
ENST00000642611.2:n.3240C>T
ENST00000645004.2:n.670C>T
ENST00000682051.1:n.3187C>T
ENST00000682110.1:n.3240C>T
ENST00000682140.1:c.3168C>T	ENSP00000507829.1:p.Thr1056=
ENST00000682185.1:n.4476C>T
ENST00000682204.1:c.*1309C>T	ENSP00000507094.1:n.*1309C>T
ENST00000682215.1:n.3237C>T
ENST00000682288.1:c.*1602C>T	ENSP00000507506.1:n.*1602C>T
ENST00000682442.1:n.3460C>T
ENST00000682528.1:n.3317C>T
ENST00000682673.1:n.3184C>T
ENST00000682805.1:n.3237C>T
ENST00000682965.1:c.3168C>T	ENSP00000508229.1:p.Thr1056=
ENST00000683093.1:n.3339C>T
ENST00000683136.1:c.3168C>T	ENSP00000507768.1:p.Thr1056=
ENST00000683153.1:n.3396C>T
ENST00000683365.1:n.3342C>T
ENST00000683377.1:n.3240C>T
ENST00000683456.1:c.*308C>T	ENSP00000508318.1:n.*308C>T
ENST00000683522.1:n.3240C>T
ENST00000683562.1:c.*1340C>T	ENSP00000508265.1:n.*1340C>T
ENST00000683693.1:n.3317C>T
ENST00000683725.1:c.3171C>T	ENSP00000507496.1:p.Thr1057=
ENST00000684010.1:n.3235C>T
ENST00000684157.1:n.3240C>T
ENST00000684253.1:n.3143C>T
ENST00000684288.1:c.*1343C>T	ENSP00000507143.1:n.*1343C>T
ENST00000684313.1:n.2672C>T
ENST00000684332.1:n.3313C>T
ENST00000684371.1:n.3346C>T
ENST00000684404.1:n.3283C>T
ENST00000684442.1:n.3240C>T
ENST00000684555.1:c.*1383C>T	ENSP00000507705.1:n.*1383C>T
ENST00000684571.1:c.3012C>T	ENSP00000506935.1:p.Thr1004=
ENST00000684593.1:c.*2876C>T	ENSP00000507005.1:n.*2876C>T
ENST00000684711.1:c.*1567C>T	ENSP00000506841.1:n.*1567C>T
ENST00000302539.9:c.3174C>T	ENSP00000303960.4:p.Thr1058=
ENST00000389817.8:c.3171C>T MANE Select	ENSP00000374467.4:p.Thr1057=
ENST00000642271.1:c.3168C>T	ENSP00000493749.1:p.Thr1056=
ENST00000642579.1:c.1255C>T
ENST00000642611.1:n.3125C>T
ENST00000642902.1:c.2953C>T
ENST00000643260.1:c.3171C>T	ENSP00000494450.1:p.Thr1057=
ENST00000643562.1:c.*1147C>T	ENSP00000496124.1:n.*1147C>T
ENST00000643925.1:c.1295C>T
ENST00000644447.1:c.1527C>T	ENSP00000496282.1:p.Thr509=
ENST00000644484.1:c.*1426C>T	ENSP00000493558.1:n.*1426C>T
ENST00000644542.1:c.*2975C>T	ENSP00000495532.1:n.*2975C>T
ENST00000644675.1:c.*1343C>T	ENSP00000494567.1:n.*1343C>T
ENST00000644757.1:c.*1456C>T	ENSP00000495085.1:n.*1456C>T
ENST00000644772.1:c.3237C>T	ENSP00000494321.1:p.Thr1079=
ENST00000645004.1:n.310C>T
ENST00000645076.1:c.2370C>T
ENST00000645417.1:c.337C>T
ENST00000645744.1:c.*1435C>T	ENSP00000494564.1:n.*1435C>T
ENST00000645760.1:c.3446C>T
ENST00000645884.1:c.*308C>T	ENSP00000495516.1:n.*308C>T
ENST00000646003.1:c.*1127C>T	ENSP00000495259.1:n.*1127C>T
ENST00000646207.1:c.*1638C>T	ENSP00000495025.1:n.*1638C>T
ENST00000646276.1:c.*1444C>T	ENSP00000496070.1:n.*1444C>T
ENST00000646592.1:c.2477C>T
ENST00000646902.1:c.3168C>T	ENSP00000494101.1:p.Thr1056=
ENST00000646993.1:c.*1567C>T	ENSP00000493720.1:n.*1567C>T
ENST00000647013.1:c.3177C>T	ENSP00000496741.1:n.3177C>T
ENST00000647015.1:c.2922C>T	ENSP00000495389.1:p.Thr974=
ENST00000647086.1:c.*2901C>T	ENSP00000493677.1:n.*2901C>T
ENST00000647158.1:c.*1312C>T	ENSP00000495744.1:n.*1312C>T
ENST00000302539.8:c.3174C>T	ENSP00000303960.4:p.Thr1058=
ENST00000389817.7:c.3171C>T	ENSP00000374467.3:p.Thr1057=
ENST00000524561.1:n.303C>T
ENST00000526921.5:n.855C>T
ENST00000527905.5:c.*47C>T	ENSP00000431653.1:n.*47C>T
NM_000352.4:c.3171C>T	NP_000343.2:p.Thr1057=
NM_001287174.1:c.3174C>T	NP_001274103.1:p.Thr1058=
XM_011520331.1:c.3171C>T	XP_011518633.1:p.Thr1057=
XM_011520332.1:c.3174C>T	XP_011518634.1:p.Thr1058=
XM_011520333.1:c.1671C>T	XP_011518635.1:p.Thr557=
XR_930890.1:n.3237C>T
XR_930891.1:n.3237C>T
XR_930892.1:n.3137C>T
XR_930893.1:n.3134C>T
NM_001351295.1:c.3237C>T	NP_001338224.1:p.Thr1079=
NM_001351296.1:c.3171C>T	NP_001338225.1:p.Thr1057=
NM_001351297.1:c.3168C>T	NP_001338226.1:p.Thr1056=
NR_147094.1:n.3320C>T
XM_017018197.2:c.3240C>T	XP_016873686.1:p.Thr1080=
XM_017018199.1:c.3237C>T	XP_016873688.1:p.Thr1079=
XM_017018201.2:c.3240C>T	XP_016873690.1:p.Thr1080=
XM_017018202.1:c.1737C>T	XP_016873691.1:p.Thr579=
XM_017018204.1:c.1128C>T	XP_016873693.1:p.Thr376=
XM_024448668.1:c.1539C>T	XP_024304436.1:p.Thr513=
XR_001747945.2:n.3312C>T
XR_001747946.2:n.3243C>T
XR_002957189.1:n.3392C>T
NM_000352.6:c.3171C>T MANE Select	NP_000343.2:p.Thr1057=
NM_001287174.2:c.3174C>T	NP_001274103.1:p.Thr1058=
NM_001351295.2:c.3237C>T	NP_001338224.1:p.Thr1079=
NM_001351296.2:c.3171C>T	NP_001338225.1:p.Thr1057=
NM_001351297.2:c.3168C>T	NP_001338226.1:p.Thr1056=
NR_147094.2:n.3320C>T
NM_001287174.3:c.3174C>T	NP_001274103.1:p.Thr1058=