Canonical Allele Identifier: CA473298553

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418550G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397003G>T , CM000673.2:g.17397003G>T	GRCh38
NC_000011.9:g.17418550G>T , CM000673.1:g.17418550G>T	GRCh37
NC_000011.8:g.17375126G>T	NCBI36
NG_008867.1:g.84900C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3633C>A
ENST00000528374.2:c.623C>A
ENST00000529967.6:n.2371C>A
ENST00000532220.2:n.2280C>A
ENST00000642611.2:n.4247C>A
ENST00000644057.2:n.475C>A
ENST00000645004.2:n.1531C>A
ENST00000682051.1:n.4194C>A
ENST00000682110.1:n.4247C>A
ENST00000682140.1:c.3985+190C>A	ENSP00000507829.1:n.3985+190C>A
ENST00000682185.1:n.5337C>A
ENST00000682204.1:c.*2170C>A	ENSP00000507094.1:n.*2170C>A
ENST00000682215.1:n.4614C>A
ENST00000682288.1:c.*2463C>A	ENSP00000507506.1:n.*2463C>A
ENST00000682442.1:n.4467C>A
ENST00000682528.1:n.4324C>A
ENST00000682673.1:n.4191C>A
ENST00000682805.1:n.4614C>A
ENST00000682965.1:c.*454C>A	ENSP00000508229.1:n.*454C>A
ENST00000683093.1:n.4346C>A
ENST00000683136.1:c.3915C>A	ENSP00000507768.1:p.Ile1305=
ENST00000683153.1:n.4289C>A
ENST00000683365.1:n.4349C>A
ENST00000683377.1:n.4247C>A
ENST00000683456.1:c.*1169C>A	ENSP00000508318.1:n.*1169C>A
ENST00000683522.1:n.4247C>A
ENST00000683562.1:c.*2201C>A	ENSP00000508265.1:n.*2201C>A
ENST00000683693.1:n.4694C>A
ENST00000683725.1:c.4032C>A	ENSP00000507496.1:p.Ile1344=
ENST00000684010.1:n.4242C>A
ENST00000684157.1:n.4247C>A
ENST00000684253.1:n.4150C>A
ENST00000684288.1:c.*2204C>A	ENSP00000507143.1:n.*2204C>A
ENST00000684313.1:n.3679C>A
ENST00000684332.1:n.4320C>A
ENST00000684371.1:n.4353C>A
ENST00000684404.1:n.4290C>A
ENST00000684442.1:n.4471C>A
ENST00000684555.1:c.*2244C>A	ENSP00000507705.1:n.*2244C>A
ENST00000684571.1:c.3873C>A	ENSP00000506935.1:p.Ile1291=
ENST00000684593.1:c.*3737C>A	ENSP00000507005.1:n.*3737C>A
ENST00000684711.1:c.*2428C>A	ENSP00000506841.1:n.*2428C>A
ENST00000302539.9:c.4035C>A	ENSP00000303960.4:p.Ile1345=
ENST00000389817.8:c.4032C>A MANE Select	ENSP00000374467.4:p.Ile1344=
ENST00000642271.1:c.4029C>A	ENSP00000493749.1:p.Ile1343=
ENST00000642579.1:c.2086C>A
ENST00000642611.1:n.4132C>A
ENST00000642902.1:c.3814C>A
ENST00000643260.1:c.4032C>A	ENSP00000494450.1:p.Ile1344=
ENST00000643562.1:c.*2154C>A	ENSP00000496124.1:n.*2154C>A
ENST00000643925.1:c.2672C>A
ENST00000644057.1:n.109C>A
ENST00000644484.1:c.*2433C>A	ENSP00000493558.1:n.*2433C>A
ENST00000644675.1:c.*2204C>A	ENSP00000494567.1:n.*2204C>A
ENST00000644757.1:c.*2463C>A	ENSP00000495085.1:n.*2463C>A
ENST00000644772.1:c.4098C>A	ENSP00000494321.1:p.Ile1366=
ENST00000645004.1:n.1687C>A
ENST00000645076.1:c.3231C>A
ENST00000645417.1:c.1220C>A
ENST00000645744.1:c.*2812C>A	ENSP00000494564.1:n.*2812C>A
ENST00000645760.1:c.4453C>A
ENST00000645884.1:c.*1315C>A	ENSP00000495516.1:n.*1315C>A
ENST00000646003.1:c.*2134C>A	ENSP00000495259.1:n.*2134C>A
ENST00000646207.1:c.*2869C>A	ENSP00000495025.1:n.*2869C>A
ENST00000646276.1:c.*2451C>A	ENSP00000496070.1:n.*2451C>A
ENST00000646592.1:c.3338C>A
ENST00000646902.1:c.3999C>A	ENSP00000494101.1:p.Ile1333=
ENST00000646993.1:c.*2574C>A	ENSP00000493720.1:n.*2574C>A
ENST00000647013.1:c.4038C>A	ENSP00000496741.1:n.4038C>A
ENST00000647015.1:c.3783C>A	ENSP00000495389.1:p.Ile1261=
ENST00000647086.1:c.*3618C>A	ENSP00000493677.1:n.*3618C>A
ENST00000647158.1:c.*2319C>A	ENSP00000495744.1:n.*2319C>A
ENST00000302539.8:c.4035C>A	ENSP00000303960.4:p.Ile1345=
ENST00000389817.7:c.4032C>A	ENSP00000374467.3:p.Ile1344=
ENST00000527905.5:c.*1054C>A	ENSP00000431653.1:n.*1054C>A
ENST00000528374.1:c.514C>A
ENST00000531137.1:n.597C>A
ENST00000531891.1:c.370C>A
ENST00000532220.1:n.506C>A
NM_000352.4:c.4032C>A	NP_000343.2:p.Ile1344=
NM_001287174.1:c.4035C>A	NP_001274103.1:p.Ile1345=
XM_011520331.1:c.4032C>A	XP_011518633.1:p.Ile1344=
XM_011520332.1:c.4035C>A	XP_011518634.1:p.Ile1345=
XM_011520333.1:c.2532C>A	XP_011518635.1:p.Ile844=
XR_930890.1:n.4098C>A
NM_001351295.1:c.4098C>A	NP_001338224.1:p.Ile1366=
NM_001351296.1:c.4032C>A	NP_001338225.1:p.Ile1344=
NM_001351297.1:c.4029C>A	NP_001338226.1:p.Ile1343=
NR_147094.1:n.4327C>A
XM_017018197.2:c.4101C>A	XP_016873686.1:p.Ile1367=
XM_017018199.1:c.4098C>A	XP_016873688.1:p.Ile1366=
XM_017018201.2:c.4101C>A	XP_016873690.1:p.Ile1367=
XM_017018202.1:c.2598C>A	XP_016873691.1:p.Ile866=
XM_017018204.1:c.1989C>A	XP_016873693.1:p.Ile663=
XM_024448668.1:c.2400C>A	XP_024304436.1:p.Ile800=
XR_001747945.2:n.4173C>A
XR_001747946.2:n.4104C>A
XR_002957189.1:n.4769C>A
NM_000352.6:c.4032C>A MANE Select	NP_000343.2:p.Ile1344=
NM_001287174.2:c.4035C>A	NP_001274103.1:p.Ile1345=
NM_001351295.2:c.4098C>A	NP_001338224.1:p.Ile1366=
NM_001351296.2:c.4032C>A	NP_001338225.1:p.Ile1344=
NM_001351297.2:c.4029C>A	NP_001338226.1:p.Ile1343=
NR_147094.2:n.4327C>A
NM_001287174.3:c.4035C>A	NP_001274103.1:p.Ile1345=