Canonical Allele Identifier: CA473300222

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2852297
• ClinVar RCV Id: RCV003693519
• MyVariant Identifiers: chr11:g.17428186G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406639G>A , CM000673.2:g.17406639G>A	GRCh38
NC_000011.9:g.17428186G>A , CM000673.1:g.17428186G>A	GRCh37
NC_000011.8:g.17384762G>A	NCBI36
NG_008867.1:g.75264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2881C>T
ENST00000529967.6:n.1651C>T
ENST00000532220.2:n.1044C>T
ENST00000642611.2:n.3381C>T
ENST00000645004.2:n.811C>T
ENST00000682051.1:n.3328C>T
ENST00000682110.1:n.3381C>T
ENST00000682140.1:c.3309C>T	ENSP00000507829.1:p.Ile1103=
ENST00000682185.1:n.4617C>T
ENST00000682204.1:c.*1450C>T	ENSP00000507094.1:n.*1450C>T
ENST00000682215.1:n.3378C>T
ENST00000682288.1:c.*1743C>T	ENSP00000507506.1:n.*1743C>T
ENST00000682442.1:n.3601C>T
ENST00000682528.1:n.3458C>T
ENST00000682673.1:n.3325C>T
ENST00000682805.1:n.3378C>T
ENST00000682965.1:c.3309C>T	ENSP00000508229.1:p.Ile1103=
ENST00000683093.1:n.3480C>T
ENST00000683136.1:c.3309C>T	ENSP00000507768.1:p.Ile1103=
ENST00000683153.1:n.3537C>T
ENST00000683365.1:n.3483C>T
ENST00000683377.1:n.3381C>T
ENST00000683456.1:c.*449C>T	ENSP00000508318.1:n.*449C>T
ENST00000683522.1:n.3381C>T
ENST00000683562.1:c.*1481C>T	ENSP00000508265.1:n.*1481C>T
ENST00000683693.1:n.3458C>T
ENST00000683725.1:c.3312C>T	ENSP00000507496.1:p.Ile1104=
ENST00000684010.1:n.3376C>T
ENST00000684157.1:n.3381C>T
ENST00000684253.1:n.3284C>T
ENST00000684288.1:c.*1484C>T	ENSP00000507143.1:n.*1484C>T
ENST00000684313.1:n.2813C>T
ENST00000684332.1:n.3454C>T
ENST00000684371.1:n.3487C>T
ENST00000684404.1:n.3424C>T
ENST00000684442.1:n.3381C>T
ENST00000684555.1:c.*1524C>T	ENSP00000507705.1:n.*1524C>T
ENST00000684571.1:c.3153C>T	ENSP00000506935.1:p.Ile1051=
ENST00000684593.1:c.*3017C>T	ENSP00000507005.1:n.*3017C>T
ENST00000684711.1:c.*1708C>T	ENSP00000506841.1:n.*1708C>T
ENST00000302539.9:c.3315C>T	ENSP00000303960.4:p.Ile1105=
ENST00000389817.8:c.3312C>T MANE Select	ENSP00000374467.4:p.Ile1104=
ENST00000642271.1:c.3309C>T	ENSP00000493749.1:p.Ile1103=
ENST00000642579.1:c.1396C>T
ENST00000642611.1:n.3266C>T
ENST00000642902.1:c.3094C>T
ENST00000643260.1:c.3312C>T	ENSP00000494450.1:p.Ile1104=
ENST00000643562.1:c.*1288C>T	ENSP00000496124.1:n.*1288C>T
ENST00000643925.1:c.1436C>T
ENST00000644447.1:c.1668C>T	ENSP00000496282.1:p.Ile556=
ENST00000644484.1:c.*1567C>T	ENSP00000493558.1:n.*1567C>T
ENST00000644542.1:c.*3116C>T	ENSP00000495532.1:n.*3116C>T
ENST00000644675.1:c.*1484C>T	ENSP00000494567.1:n.*1484C>T
ENST00000644757.1:c.*1597C>T	ENSP00000495085.1:n.*1597C>T
ENST00000644772.1:c.3378C>T	ENSP00000494321.1:p.Ile1126=
ENST00000645004.1:n.451C>T
ENST00000645076.1:c.2511C>T
ENST00000645417.1:c.478C>T
ENST00000645744.1:c.*1576C>T	ENSP00000494564.1:n.*1576C>T
ENST00000645760.1:c.3587C>T
ENST00000645884.1:c.*449C>T	ENSP00000495516.1:n.*449C>T
ENST00000646003.1:c.*1268C>T	ENSP00000495259.1:n.*1268C>T
ENST00000646207.1:c.*1779C>T	ENSP00000495025.1:n.*1779C>T
ENST00000646276.1:c.*1585C>T	ENSP00000496070.1:n.*1585C>T
ENST00000646592.1:c.2618C>T
ENST00000646902.1:c.3309C>T	ENSP00000494101.1:p.Ile1103=
ENST00000646993.1:c.*1708C>T	ENSP00000493720.1:n.*1708C>T
ENST00000647013.1:c.3318C>T	ENSP00000496741.1:n.3318C>T
ENST00000647015.1:c.3063C>T	ENSP00000495389.1:p.Ile1021=
ENST00000647086.1:c.*3042C>T	ENSP00000493677.1:n.*3042C>T
ENST00000647158.1:c.*1453C>T	ENSP00000495744.1:n.*1453C>T
ENST00000302539.8:c.3315C>T	ENSP00000303960.4:p.Ile1105=
ENST00000389817.7:c.3312C>T	ENSP00000374467.3:p.Ile1104=
ENST00000524561.1:n.444C>T
ENST00000527905.5:c.*188C>T	ENSP00000431653.1:n.*188C>T
NM_000352.4:c.3312C>T	NP_000343.2:p.Ile1104=
NM_001287174.1:c.3315C>T	NP_001274103.1:p.Ile1105=
XM_011520331.1:c.3312C>T	XP_011518633.1:p.Ile1104=
XM_011520332.1:c.3315C>T	XP_011518634.1:p.Ile1105=
XM_011520333.1:c.1812C>T	XP_011518635.1:p.Ile604=
XR_930890.1:n.3378C>T
XR_930891.1:n.3378C>T
XR_930892.1:n.3278C>T
XR_930893.1:n.3275C>T
NM_001351295.1:c.3378C>T	NP_001338224.1:p.Ile1126=
NM_001351296.1:c.3312C>T	NP_001338225.1:p.Ile1104=
NM_001351297.1:c.3309C>T	NP_001338226.1:p.Ile1103=
NR_147094.1:n.3461C>T
XM_017018197.2:c.3381C>T	XP_016873686.1:p.Ile1127=
XM_017018199.1:c.3378C>T	XP_016873688.1:p.Ile1126=
XM_017018201.2:c.3381C>T	XP_016873690.1:p.Ile1127=
XM_017018202.1:c.1878C>T	XP_016873691.1:p.Ile626=
XM_017018204.1:c.1269C>T	XP_016873693.1:p.Ile423=
XM_024448668.1:c.1680C>T	XP_024304436.1:p.Ile560=
XR_001747945.2:n.3453C>T
XR_001747946.2:n.3384C>T
XR_002957189.1:n.3533C>T
NM_000352.6:c.3312C>T MANE Select	NP_000343.2:p.Ile1104=
NM_001287174.2:c.3315C>T	NP_001274103.1:p.Ile1105=
NM_001351295.2:c.3378C>T	NP_001338224.1:p.Ile1126=
NM_001351296.2:c.3312C>T	NP_001338225.1:p.Ile1104=
NM_001351297.2:c.3309C>T	NP_001338226.1:p.Ile1103=
NR_147094.2:n.3461C>T
NM_001287174.3:c.3315C>T	NP_001274103.1:p.Ile1105=